SNP Links for Protein (Select 970598249) - SNP

Links from Protein

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Select item 14897784961.

rs1489778496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:83971983 (GRCh38)
9:86586898 (GRCh37)
Canonical SPDI:: NC_000009.12:83971982:G:A
Gene:: HNRNPK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.83971983G>A, NC_000009.11:g.86586898G>A, NG_029577.1:g.13672C>T, NM_002140.5:c.852C>T, NM_002140.4:c.852C>T, NM_002140.3:c.852C>T, NM_031263.4:c.852C>T, NM_031263.3:c.852C>T, NM_031263.2:c.852C>T, NM_031262.4:c.852C>T, NM_031262.3:c.852C>T, NM_031262.2:c.852C>T, NM_001318188.2:c.852C>T, NM_001318188.1:c.852C>T, NM_001318187.2:c.780C>T, NM_001318187.1:c.780C>T, NM_001318186.2:c.780C>T, NM_001318186.1:c.780C>T, XM_005251963.5:c.780C>T, XM_005251963.4:c.780C>T, XM_005251963.3:c.780C>T, XM_005251963.2:c.780C>T, XM_005251963.1:c.780C>T, XM_005251965.4:c.780C>T, XM_005251965.3:c.780C>T, XM_005251965.2:c.780C>T, XM_005251965.1:c.780C>T, XM_005251960.3:c.852C>T, XM_005251960.2:c.852C>T, XM_005251960.1:c.852C>T

Select item 14895491812.

rs1489549181 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:83978226 (GRCh38)
9:86593141 (GRCh37)
Canonical SPDI:: NC_000009.12:83978225:G:C
Gene:: HNRNPK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.83978226G>C, NC_000009.11:g.86593141G>C, NG_029577.1:g.7429C>G, NM_002140.5:c.27C>G, NM_002140.4:c.27C>G, NM_002140.3:c.27C>G, NM_031263.4:c.27C>G, NM_031263.3:c.27C>G, NM_031263.2:c.27C>G, NM_031262.4:c.27C>G, NM_031262.3:c.27C>G, NM_031262.2:c.27C>G, NM_001318188.2:c.27C>G, NM_001318188.1:c.27C>G, NM_001318187.2:c.27C>G, NM_001318187.1:c.27C>G, NM_001318186.2:c.27C>G, NM_001318186.1:c.27C>G, XM_005251963.5:c.27C>G, XM_005251963.4:c.27C>G, XM_005251963.3:c.27C>G, XM_005251963.2:c.27C>G, XM_005251963.1:c.27C>G, XM_005251965.4:c.27C>G, XM_005251965.3:c.27C>G, XM_005251965.2:c.27C>G, XM_005251965.1:c.27C>G, XM_005251960.3:c.27C>G, XM_005251960.2:c.27C>G, XM_005251960.1:c.27C>G

Select item 14786284953.

rs1478628495 has merged into rs765696098 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGGTGG>-,TGG,TGGTGGTGG [Show Flanks]
Chromosome:: 9:83971899 (GRCh38)
9:86586814 (GRCh37)
Canonical SPDI:: NC_000009.12:83971890:GGTGGTGGTGGTGG:GGTGGTGG,NC_000009.12:83971890:GGTGGTGGTGGTGG:GGTGGTGGTGG,NC_000009.12:83971890:GGTGGTGGTGGTGG:GGTGGTGGTGGTGGTGG
Gene:: HNRNPK (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: GGTGGTGG=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000009/1 (ExAC)
HGVS:: NC_000009.12:g.83971893TGG[2], NC_000009.12:g.83971893TGG[3], NC_000009.12:g.83971893TGG[5], NC_000009.11:g.86586808TGG[2], NC_000009.11:g.86586808TGG[3], NC_000009.11:g.86586808TGG[5], NG_029577.1:g.13753ACC[2], NG_029577.1:g.13753ACC[3], NG_029577.1:g.13753ACC[5], NM_002140.5:c.933ACC[2], NM_002140.5:c.933ACC[3], NM_002140.5:c.933ACC[5], NM_002140.4:c.933ACC[2], NM_002140.4:c.933ACC[3], NM_002140.4:c.933ACC[5], NM_002140.3:c.933ACC[2], NM_002140.3:c.933ACC[3], NM_002140.3:c.933ACC[5], NM_031263.4:c.933ACC[2], NM_031263.4:c.933ACC[3], NM_031263.4:c.933ACC[5], NM_031263.3:c.933ACC[2], NM_031263.3:c.933ACC[3], NM_031263.3:c.933ACC[5], NM_031263.2:c.933ACC[2], NM_031263.2:c.933ACC[3], NM_031263.2:c.933ACC[5], NM_031262.4:c.933ACC[2], NM_031262.4:c.933ACC[3], NM_031262.4:c.933ACC[5], NM_031262.3:c.933ACC[2], NM_031262.3:c.933ACC[3], NM_031262.3:c.933ACC[5], NM_031262.2:c.933ACC[2], NM_031262.2:c.933ACC[3], NM_031262.2:c.933ACC[5], NM_001318188.2:c.933ACC[2], NM_001318188.2:c.933ACC[3], NM_001318188.2:c.933ACC[5], NM_001318188.1:c.933ACC[2], NM_001318188.1:c.933ACC[3], NM_001318188.1:c.933ACC[5], NM_001318187.2:c.861ACC[2], NM_001318187.2:c.861ACC[3], NM_001318187.2:c.861ACC[5], NM_001318187.1:c.861ACC[2], NM_001318187.1:c.861ACC[3], NM_001318187.1:c.861ACC[5], NM_001318186.2:c.861ACC[2], NM_001318186.2:c.861ACC[3], NM_001318186.2:c.861ACC[5], NM_001318186.1:c.861ACC[2], NM_001318186.1:c.861ACC[3], NM_001318186.1:c.861ACC[5], XM_005251963.5:c.861ACC[2], XM_005251963.5:c.861ACC[3], XM_005251963.5:c.861ACC[5], XM_005251963.4:c.861ACC[2], XM_005251963.4:c.861ACC[3], XM_005251963.4:c.861ACC[5], XM_005251963.3:c.861ACC[2], XM_005251963.3:c.861ACC[3], XM_005251963.3:c.861ACC[5], XM_005251963.2:c.861ACC[2], XM_005251963.2:c.861ACC[3], XM_005251963.2:c.861ACC[5], XM_005251963.1:c.861ACC[2], XM_005251963.1:c.861ACC[3], XM_005251963.1:c.861ACC[5], XM_005251965.4:c.861ACC[2], XM_005251965.4:c.861ACC[3], XM_005251965.4:c.861ACC[5], XM_005251965.3:c.861ACC[2], XM_005251965.3:c.861ACC[3], XM_005251965.3:c.861ACC[5], XM_005251965.2:c.861ACC[2], XM_005251965.2:c.861ACC[3], XM_005251965.2:c.861ACC[5], XM_005251965.1:c.861ACC[2], XM_005251965.1:c.861ACC[3], XM_005251965.1:c.861ACC[5], XM_005251960.3:c.933ACC[2], XM_005251960.3:c.933ACC[3], XM_005251960.3:c.933ACC[5], XM_005251960.2:c.933ACC[2], XM_005251960.2:c.933ACC[3], XM_005251960.2:c.933ACC[5], XM_005251960.1:c.933ACC[2], XM_005251960.1:c.933ACC[3], XM_005251960.1:c.933ACC[5], NP_002131.2:p.Pro314_Pro315del, NP_002131.2:p.Pro315del, NP_002131.2:p.Pro315dup, NP_112553.1:p.Pro314_Pro315del, NP_112553.1:p.Pro315del, NP_112553.1:p.Pro315dup, NP_112552.1:p.Pro314_Pro315del, NP_112552.1:p.Pro315del, NP_112552.1:p.Pro315dup, NP_001305117.1:p.Pro314_Pro315del, NP_001305117.1:p.Pro315del, NP_001305117.1:p.Pro315dup, NP_001305116.1:p.Pro290_Pro291del, NP_001305116.1:p.Pro291del, NP_001305116.1:p.Pro291dup, NP_001305115.1:p.Pro290_Pro291del, NP_001305115.1:p.Pro291del, NP_001305115.1:p.Pro291dup, XP_005252020.1:p.Pro290_Pro291del, XP_005252020.1:p.Pro291del, XP_005252020.1:p.Pro291dup, XP_005252022.1:p.Pro290_Pro291del, XP_005252022.1:p.Pro291del, XP_005252022.1:p.Pro291dup, XP_005252017.1:p.Pro314_Pro315del, XP_005252017.1:p.Pro315del, XP_005252017.1:p.Pro315dup

Select item 14727559994.

rs1472755999 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:83971680 (GRCh38)
9:86586595 (GRCh37)
Canonical SPDI:: NC_000009.12:83971679:C:T
Gene:: HNRNPK (Varview), MIR7-1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.83971680C>T, NC_000009.11:g.86586595C>T, NG_029577.1:g.13975G>A, NM_002140.5:c.1000G>A, NM_002140.4:c.1000G>A, NM_002140.3:c.1000G>A, NM_031263.4:c.1000G>A, NM_031263.3:c.1000G>A, NM_031263.2:c.1000G>A, NM_031262.4:c.1000G>A, NM_031262.3:c.1000G>A, NM_031262.2:c.1000G>A, NM_001318188.2:c.1000G>A, NM_001318188.1:c.1000G>A, NM_001318187.2:c.928G>A, NM_001318187.1:c.928G>A, NM_001318186.2:c.928G>A, NM_001318186.1:c.928G>A, XM_005251963.5:c.928G>A, XM_005251963.4:c.928G>A, XM_005251963.3:c.928G>A, XM_005251963.2:c.928G>A, XM_005251963.1:c.928G>A, XM_005251965.4:c.928G>A, XM_005251965.3:c.928G>A, XM_005251965.2:c.928G>A, XM_005251965.1:c.928G>A, XM_005251960.3:c.1000G>A, XM_005251960.2:c.1000G>A, XM_005251960.1:c.1000G>A, NP_002131.2:p.Asp334Asn, NP_112553.1:p.Asp334Asn, NP_112552.1:p.Asp334Asn, NP_001305117.1:p.Asp334Asn, NP_001305116.1:p.Asp310Asn, NP_001305115.1:p.Asp310Asn, XP_005252020.1:p.Asp310Asn, XP_005252022.1:p.Asp310Asn, XP_005252017.1:p.Asp334Asn

Select item 14650681625.

rs1465068162 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 9:83972010 (GRCh38)
9:86586925 (GRCh37)
Canonical SPDI:: NC_000009.12:83972009:T:C,NC_000009.12:83972009:T:G
Gene:: HNRNPK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.83972010T>C, NC_000009.12:g.83972010T>G, NC_000009.11:g.86586925T>C, NC_000009.11:g.86586925T>G, NG_029577.1:g.13645A>G, NG_029577.1:g.13645A>C, NM_002140.5:c.825A>G, NM_002140.5:c.825A>C, NM_002140.4:c.825A>G, NM_002140.4:c.825A>C, NM_002140.3:c.825A>G, NM_002140.3:c.825A>C, NM_031263.4:c.825A>G, NM_031263.4:c.825A>C, NM_031263.3:c.825A>G, NM_031263.3:c.825A>C, NM_031263.2:c.825A>G, NM_031263.2:c.825A>C, NM_031262.4:c.825A>G, NM_031262.4:c.825A>C, NM_031262.3:c.825A>G, NM_031262.3:c.825A>C, NM_031262.2:c.825A>G, NM_031262.2:c.825A>C, NM_001318188.2:c.825A>G, NM_001318188.2:c.825A>C, NM_001318188.1:c.825A>G, NM_001318188.1:c.825A>C, NM_001318187.2:c.753A>G, NM_001318187.2:c.753A>C, NM_001318187.1:c.753A>G, NM_001318187.1:c.753A>C, NM_001318186.2:c.753A>G, NM_001318186.2:c.753A>C, NM_001318186.1:c.753A>G, NM_001318186.1:c.753A>C, XM_005251963.5:c.753A>G, XM_005251963.5:c.753A>C, XM_005251963.4:c.753A>G, XM_005251963.4:c.753A>C, XM_005251963.3:c.753A>G, XM_005251963.3:c.753A>C, XM_005251963.2:c.753A>G, XM_005251963.2:c.753A>C, XM_005251963.1:c.753A>G, XM_005251963.1:c.753A>C, XM_005251965.4:c.753A>G, XM_005251965.4:c.753A>C, XM_005251965.3:c.753A>G, XM_005251965.3:c.753A>C, XM_005251965.2:c.753A>G, XM_005251965.2:c.753A>C, XM_005251965.1:c.753A>G, XM_005251965.1:c.753A>C, XM_005251960.3:c.825A>G, XM_005251960.3:c.825A>C, XM_005251960.2:c.825A>G, XM_005251960.2:c.825A>C, XM_005251960.1:c.825A>G, XM_005251960.1:c.825A>C

Select item 14624919526.

rs1462491952 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:83970215 (GRCh38)
9:86585130 (GRCh37)
Canonical SPDI:: NC_000009.12:83970214:G:A
Gene:: HNRNPK (Varview), MIR7-1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.83970215G>A, NC_000009.11:g.86585130G>A, NG_029577.1:g.15440C>T, NM_002140.5:c.1308C>T, NM_002140.4:c.1308C>T, NM_002140.3:c.1308C>T, NM_031263.4:c.1308C>T, NM_031263.3:c.1308C>T, NM_031263.2:c.1308C>T, NM_031262.4:c.1308C>T, NM_031262.3:c.1308C>T, NM_031262.2:c.1308C>T, NM_001318188.2:c.1308C>T, NM_001318188.1:c.1308C>T, NM_001318187.2:c.1236C>T, NM_001318187.1:c.1236C>T, NM_001318186.2:c.1236C>T, NM_001318186.1:c.1236C>T, XM_005251963.5:c.1236C>T, XM_005251963.4:c.1236C>T, XM_005251963.3:c.1236C>T, XM_005251963.2:c.1236C>T, XM_005251963.1:c.1236C>T, XM_005251965.4:c.1236C>T, XM_005251965.3:c.1236C>T, XM_005251965.2:c.1236C>T, XM_005251965.1:c.1236C>T, XM_005251960.3:c.1308C>T, XM_005251960.2:c.1308C>T, XM_005251960.1:c.1308C>T

Select item 14613644977.

rs1461364497 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:83971935 (GRCh38)
9:86586850 (GRCh37)
Canonical SPDI:: NC_000009.12:83971934:A:C,NC_000009.12:83971934:A:G
Gene:: HNRNPK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
C=0.009825/18 (Korea1K)
HGVS:: NC_000009.12:g.83971935A>C, NC_000009.12:g.83971935A>G, NC_000009.11:g.86586850A>C, NC_000009.11:g.86586850A>G, NG_029577.1:g.13720T>G, NG_029577.1:g.13720T>C, NM_002140.5:c.900T>G, NM_002140.5:c.900T>C, NM_002140.4:c.900T>G, NM_002140.4:c.900T>C, NM_002140.3:c.900T>G, NM_002140.3:c.900T>C, NM_031263.4:c.900T>G, NM_031263.4:c.900T>C, NM_031263.3:c.900T>G, NM_031263.3:c.900T>C, NM_031263.2:c.900T>G, NM_031263.2:c.900T>C, NM_031262.4:c.900T>G, NM_031262.4:c.900T>C, NM_031262.3:c.900T>G, NM_031262.3:c.900T>C, NM_031262.2:c.900T>G, NM_031262.2:c.900T>C, NM_001318188.2:c.900T>G, NM_001318188.2:c.900T>C, NM_001318188.1:c.900T>G, NM_001318188.1:c.900T>C, NM_001318187.2:c.828T>G, NM_001318187.2:c.828T>C, NM_001318187.1:c.828T>G, NM_001318187.1:c.828T>C, NM_001318186.2:c.828T>G, NM_001318186.2:c.828T>C, NM_001318186.1:c.828T>G, NM_001318186.1:c.828T>C, XM_005251963.5:c.828T>G, XM_005251963.5:c.828T>C, XM_005251963.4:c.828T>G, XM_005251963.4:c.828T>C, XM_005251963.3:c.828T>G, XM_005251963.3:c.828T>C, XM_005251963.2:c.828T>G, XM_005251963.2:c.828T>C, XM_005251963.1:c.828T>G, XM_005251963.1:c.828T>C, XM_005251965.4:c.828T>G, XM_005251965.4:c.828T>C, XM_005251965.3:c.828T>G, XM_005251965.3:c.828T>C, XM_005251965.2:c.828T>G, XM_005251965.2:c.828T>C, XM_005251965.1:c.828T>G, XM_005251965.1:c.828T>C, XM_005251960.3:c.900T>G, XM_005251960.3:c.900T>C, XM_005251960.2:c.900T>G, XM_005251960.2:c.900T>C, XM_005251960.1:c.900T>G, XM_005251960.1:c.900T>C

Select item 14612810888.

rs1461281088 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:83973286 (GRCh38)
9:86588201 (GRCh37)
Canonical SPDI:: NC_000009.12:83973285:C:T
Gene:: HNRNPK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000009.12:g.83973286C>T, NC_000009.11:g.86588201C>T, NG_029577.1:g.12369G>A, NM_002140.5:c.516G>A, NM_002140.4:c.516G>A, NM_002140.3:c.516G>A, NM_031263.4:c.516G>A, NM_031263.3:c.516G>A, NM_031263.2:c.516G>A, NM_031262.4:c.516G>A, NM_031262.3:c.516G>A, NM_031262.2:c.516G>A, NM_001318188.2:c.516G>A, NM_001318188.1:c.516G>A, NM_001318187.2:c.444G>A, NM_001318187.1:c.444G>A, NM_001318186.2:c.444G>A, NM_001318186.1:c.444G>A, XM_005251963.5:c.444G>A, XM_005251963.4:c.444G>A, XM_005251963.3:c.444G>A, XM_005251963.2:c.444G>A, XM_005251963.1:c.444G>A, XM_005251965.4:c.444G>A, XM_005251965.3:c.444G>A, XM_005251965.2:c.444G>A, XM_005251965.1:c.444G>A, XM_005251960.3:c.516G>A, XM_005251960.2:c.516G>A, XM_005251960.1:c.516G>A

Select item 14597058809.

rs1459705880 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:83974552 (GRCh38)
9:86589467 (GRCh37)
Canonical SPDI:: NC_000009.12:83974551:C:T
Gene:: HNRNPK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.83974552C>T, NC_000009.11:g.86589467C>T, NG_029577.1:g.11103G>A, NM_002140.5:c.295G>A, NM_002140.4:c.295G>A, NM_002140.3:c.295G>A, NM_031263.4:c.295G>A, NM_031263.3:c.295G>A, NM_031263.2:c.295G>A, NM_031262.4:c.295G>A, NM_031262.3:c.295G>A, NM_031262.2:c.295G>A, NM_001318188.2:c.295G>A, NM_001318188.1:c.295G>A, NM_001318187.2:c.295G>A, NM_001318187.1:c.295G>A, NM_001318186.2:c.295G>A, NM_001318186.1:c.295G>A, XM_005251963.5:c.295G>A, XM_005251963.4:c.295G>A, XM_005251963.3:c.295G>A, XM_005251963.2:c.295G>A, XM_005251963.1:c.295G>A, XM_005251965.4:c.295G>A, XM_005251965.3:c.295G>A, XM_005251965.2:c.295G>A, XM_005251965.1:c.295G>A, XM_005251960.3:c.295G>A, XM_005251960.2:c.295G>A, XM_005251960.1:c.295G>A, NP_002131.2:p.Glu99Lys, NP_112553.1:p.Glu99Lys, NP_112552.1:p.Glu99Lys, NP_001305117.1:p.Glu99Lys, NP_001305116.1:p.Glu99Lys, NP_001305115.1:p.Glu99Lys, XP_005252020.1:p.Glu99Lys, XP_005252022.1:p.Glu99Lys, XP_005252017.1:p.Glu99Lys

Select item 145339126510.

rs1453391265 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:83972169 (GRCh38)
9:86587084 (GRCh37)
Canonical SPDI:: NC_000009.12:83972168:T:C
Gene:: HNRNPK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.83972169T>C, NC_000009.11:g.86587084T>C, NG_029577.1:g.13486A>G, NM_002140.5:c.666A>G, NM_002140.4:c.666A>G, NM_002140.3:c.666A>G, NM_031263.4:c.666A>G, NM_031263.3:c.666A>G, NM_031263.2:c.666A>G, NM_031262.4:c.666A>G, NM_031262.3:c.666A>G, NM_031262.2:c.666A>G, NM_001318188.2:c.666A>G, NM_001318188.1:c.666A>G, NM_001318187.2:c.594A>G, NM_001318187.1:c.594A>G, NM_001318186.2:c.594A>G, NM_001318186.1:c.594A>G, XM_005251963.5:c.594A>G, XM_005251963.4:c.594A>G, XM_005251963.3:c.594A>G, XM_005251963.2:c.594A>G, XM_005251963.1:c.594A>G, XM_005251965.4:c.594A>G, XM_005251965.3:c.594A>G, XM_005251965.2:c.594A>G, XM_005251965.1:c.594A>G, XM_005251960.3:c.666A>G, XM_005251960.2:c.666A>G, XM_005251960.1:c.666A>G

Select item 145324613011.

rs1453246130 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:83976998 (GRCh38)
9:86591913 (GRCh37)
Canonical SPDI:: NC_000009.12:83976997:T:G
Gene:: HNRNPK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000342/1 (KOREAN)
G=0.000546/1 (Korea1K)
HGVS:: NC_000009.12:g.83976998T>G, NC_000009.11:g.86591913T>G, NG_029577.1:g.8657A>C, NM_002140.5:c.210A>C, NM_002140.4:c.210A>C, NM_002140.3:c.210A>C, NM_031263.4:c.210A>C, NM_031263.3:c.210A>C, NM_031263.2:c.210A>C, NM_031262.4:c.210A>C, NM_031262.3:c.210A>C, NM_031262.2:c.210A>C, NM_001318188.2:c.210A>C, NM_001318188.1:c.210A>C, NM_001318187.2:c.210A>C, NM_001318187.1:c.210A>C, NM_001318186.2:c.210A>C, NM_001318186.1:c.210A>C, XM_005251963.5:c.210A>C, XM_005251963.4:c.210A>C, XM_005251963.3:c.210A>C, XM_005251963.2:c.210A>C, XM_005251963.1:c.210A>C, XM_005251965.4:c.210A>C, XM_005251965.3:c.210A>C, XM_005251965.2:c.210A>C, XM_005251965.1:c.210A>C, XM_005251960.3:c.210A>C, XM_005251960.2:c.210A>C, XM_005251960.1:c.210A>C

Select item 145285915512.

rs1452859155 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:83972873 (GRCh38)
9:86587788 (GRCh37)
Canonical SPDI:: NC_000009.12:83972872:T:C
Gene:: HNRNPK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.83972873T>C, NC_000009.11:g.86587788T>C, NG_029577.1:g.12782A>G, NM_002140.5:c.616A>G, NM_002140.4:c.616A>G, NM_002140.3:c.616A>G, NM_031263.4:c.616A>G, NM_031263.3:c.616A>G, NM_031263.2:c.616A>G, NM_031262.4:c.616A>G, NM_031262.3:c.616A>G, NM_031262.2:c.616A>G, NM_001318188.2:c.616A>G, NM_001318188.1:c.616A>G, NM_001318187.2:c.544A>G, NM_001318187.1:c.544A>G, NM_001318186.2:c.544A>G, NM_001318186.1:c.544A>G, XM_005251963.5:c.544A>G, XM_005251963.4:c.544A>G, XM_005251963.3:c.544A>G, XM_005251963.2:c.544A>G, XM_005251963.1:c.544A>G, XM_005251965.4:c.544A>G, XM_005251965.3:c.544A>G, XM_005251965.2:c.544A>G, XM_005251965.1:c.544A>G, XM_005251960.3:c.616A>G, XM_005251960.2:c.616A>G, XM_005251960.1:c.616A>G, NP_002131.2:p.Ile206Val, NP_112553.1:p.Ile206Val, NP_112552.1:p.Ile206Val, NP_001305117.1:p.Ile206Val, NP_001305116.1:p.Ile182Val, NP_001305115.1:p.Ile182Val, XP_005252020.1:p.Ile182Val, XP_005252022.1:p.Ile182Val, XP_005252017.1:p.Ile206Val

Select item 145005311613.

rs1450053116 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:83973322 (GRCh38)
9:86588237 (GRCh37)
Canonical SPDI:: NC_000009.12:83973321:A:G
Gene:: HNRNPK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.83973322A>G, NC_000009.11:g.86588237A>G, NG_029577.1:g.12333T>C, NM_002140.5:c.480T>C, NM_002140.4:c.480T>C, NM_002140.3:c.480T>C, NM_031263.4:c.480T>C, NM_031263.3:c.480T>C, NM_031263.2:c.480T>C, NM_031262.4:c.480T>C, NM_031262.3:c.480T>C, NM_031262.2:c.480T>C, NM_001318188.2:c.480T>C, NM_001318188.1:c.480T>C, NM_001318187.2:c.408T>C, NM_001318187.1:c.408T>C, NM_001318186.2:c.408T>C, NM_001318186.1:c.408T>C, XM_005251963.5:c.408T>C, XM_005251963.4:c.408T>C, XM_005251963.3:c.408T>C, XM_005251963.2:c.408T>C, XM_005251963.1:c.408T>C, XM_005251965.4:c.408T>C, XM_005251965.3:c.408T>C, XM_005251965.2:c.408T>C, XM_005251965.1:c.408T>C, XM_005251960.3:c.480T>C, XM_005251960.2:c.480T>C, XM_005251960.1:c.480T>C

Select item 144493663214.

rs1444936632 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:83972183 (GRCh38)
9:86587098 (GRCh37)
Canonical SPDI:: NC_000009.12:83972182:T:C
Gene:: HNRNPK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.83972183T>C, NC_000009.11:g.86587098T>C, NG_029577.1:g.13472A>G, NM_002140.5:c.652A>G, NM_002140.4:c.652A>G, NM_002140.3:c.652A>G, NM_031263.4:c.652A>G, NM_031263.3:c.652A>G, NM_031263.2:c.652A>G, NM_031262.4:c.652A>G, NM_031262.3:c.652A>G, NM_031262.2:c.652A>G, NM_001318188.2:c.652A>G, NM_001318188.1:c.652A>G, NM_001318187.2:c.580A>G, NM_001318187.1:c.580A>G, NM_001318186.2:c.580A>G, NM_001318186.1:c.580A>G, XM_005251963.5:c.580A>G, XM_005251963.4:c.580A>G, XM_005251963.3:c.580A>G, XM_005251963.2:c.580A>G, XM_005251963.1:c.580A>G, XM_005251965.4:c.580A>G, XM_005251965.3:c.580A>G, XM_005251965.2:c.580A>G, XM_005251965.1:c.580A>G, XM_005251960.3:c.652A>G, XM_005251960.2:c.652A>G, XM_005251960.1:c.652A>G, NP_002131.2:p.Ile218Val, NP_112553.1:p.Ile218Val, NP_112552.1:p.Ile218Val, NP_001305117.1:p.Ile218Val, NP_001305116.1:p.Ile194Val, NP_001305115.1:p.Ile194Val, XP_005252020.1:p.Ile194Val, XP_005252022.1:p.Ile194Val, XP_005252017.1:p.Ile218Val

Select item 144360346515.

rs1443603465 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:83970903 (GRCh38)
9:86585818 (GRCh37)
Canonical SPDI:: NC_000009.12:83970902:C:T
Gene:: HNRNPK (Varview), MIR7-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.83970903C>T, NC_000009.11:g.86585818C>T, NG_029577.1:g.14752G>A, NM_002140.5:c.1102G>A, NM_002140.4:c.1102G>A, NM_002140.3:c.1102G>A, NM_031263.4:c.1102G>A, NM_031263.3:c.1102G>A, NM_031263.2:c.1102G>A, NM_031262.4:c.1102G>A, NM_031262.3:c.1102G>A, NM_031262.2:c.1102G>A, NM_001318188.2:c.1102G>A, NM_001318188.1:c.1102G>A, NM_001318187.2:c.1030G>A, NM_001318187.1:c.1030G>A, NM_001318186.2:c.1030G>A, NM_001318186.1:c.1030G>A, XM_005251963.5:c.1030G>A, XM_005251963.4:c.1030G>A, XM_005251963.3:c.1030G>A, XM_005251963.2:c.1030G>A, XM_005251963.1:c.1030G>A, XM_005251965.4:c.1030G>A, XM_005251965.3:c.1030G>A, XM_005251965.2:c.1030G>A, XM_005251965.1:c.1030G>A, XM_005251960.3:c.1102G>A, XM_005251960.2:c.1102G>A, XM_005251960.1:c.1102G>A, NP_002131.2:p.Gly368Arg, NP_112553.1:p.Gly368Arg, NP_112552.1:p.Gly368Arg, NP_001305117.1:p.Gly368Arg, NP_001305116.1:p.Gly344Arg, NP_001305115.1:p.Gly344Arg, XP_005252020.1:p.Gly344Arg, XP_005252022.1:p.Gly344Arg, XP_005252017.1:p.Gly368Arg

Select item 144325768216.

rs1443257682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:83971675 (GRCh38)
9:86586590 (GRCh37)
Canonical SPDI:: NC_000009.12:83971674:G:C
Gene:: HNRNPK (Varview), MIR7-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.83971675G>C, NC_000009.11:g.86586590G>C, NG_029577.1:g.13980C>G, NM_002140.5:c.1005C>G, NM_002140.4:c.1005C>G, NM_002140.3:c.1005C>G, NM_031263.4:c.1005C>G, NM_031263.3:c.1005C>G, NM_031263.2:c.1005C>G, NM_031262.4:c.1005C>G, NM_031262.3:c.1005C>G, NM_031262.2:c.1005C>G, NM_001318188.2:c.1005C>G, NM_001318188.1:c.1005C>G, NM_001318187.2:c.933C>G, NM_001318187.1:c.933C>G, NM_001318186.2:c.933C>G, NM_001318186.1:c.933C>G, XM_005251963.5:c.933C>G, XM_005251963.4:c.933C>G, XM_005251963.3:c.933C>G, XM_005251963.2:c.933C>G, XM_005251963.1:c.933C>G, XM_005251965.4:c.933C>G, XM_005251965.3:c.933C>G, XM_005251965.2:c.933C>G, XM_005251965.1:c.933C>G, XM_005251960.3:c.1005C>G, XM_005251960.2:c.1005C>G, XM_005251960.1:c.1005C>G

Select item 143766595617.

rs1437665956 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:83972948 (GRCh38)
9:86587863 (GRCh37)
Canonical SPDI:: NC_000009.12:83972947:A:G
Gene:: HNRNPK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.83972948A>G, NC_000009.11:g.86587863A>G, NG_029577.1:g.12707T>C, NM_002140.5:c.541T>C, NM_002140.4:c.541T>C, NM_002140.3:c.541T>C, NM_031263.4:c.541T>C, NM_031263.3:c.541T>C, NM_031263.2:c.541T>C, NM_031262.4:c.541T>C, NM_031262.3:c.541T>C, NM_031262.2:c.541T>C, NM_001318188.2:c.541T>C, NM_001318188.1:c.541T>C, NM_001318187.2:c.469T>C, NM_001318187.1:c.469T>C, NM_001318186.2:c.469T>C, NM_001318186.1:c.469T>C, XM_005251963.5:c.469T>C, XM_005251963.4:c.469T>C, XM_005251963.3:c.469T>C, XM_005251963.2:c.469T>C, XM_005251963.1:c.469T>C, XM_005251965.4:c.469T>C, XM_005251965.3:c.469T>C, XM_005251965.2:c.469T>C, XM_005251965.1:c.469T>C, XM_005251960.3:c.541T>C, XM_005251960.2:c.541T>C, XM_005251960.1:c.541T>C, NP_002131.2:p.Phe181Leu, NP_112553.1:p.Phe181Leu, NP_112552.1:p.Phe181Leu, NP_001305117.1:p.Phe181Leu, NP_001305116.1:p.Phe157Leu, NP_001305115.1:p.Phe157Leu, XP_005252020.1:p.Phe157Leu, XP_005252022.1:p.Phe157Leu, XP_005252017.1:p.Phe181Leu

Select item 142081556418.

rs1420815564 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:83977040 (GRCh38)
9:86591955 (GRCh37)
Canonical SPDI:: NC_000009.12:83977039:T:C
Gene:: HNRNPK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000009.12:g.83977040T>C, NC_000009.11:g.86591955T>C, NG_029577.1:g.8615A>G, NM_002140.5:c.168A>G, NM_002140.4:c.168A>G, NM_002140.3:c.168A>G, NM_031263.4:c.168A>G, NM_031263.3:c.168A>G, NM_031263.2:c.168A>G, NM_031262.4:c.168A>G, NM_031262.3:c.168A>G, NM_031262.2:c.168A>G, NM_001318188.2:c.168A>G, NM_001318188.1:c.168A>G, NM_001318187.2:c.168A>G, NM_001318187.1:c.168A>G, NM_001318186.2:c.168A>G, NM_001318186.1:c.168A>G, XM_005251963.5:c.168A>G, XM_005251963.4:c.168A>G, XM_005251963.3:c.168A>G, XM_005251963.2:c.168A>G, XM_005251963.1:c.168A>G, XM_005251965.4:c.168A>G, XM_005251965.3:c.168A>G, XM_005251965.2:c.168A>G, XM_005251965.1:c.168A>G, XM_005251960.3:c.168A>G, XM_005251960.2:c.168A>G, XM_005251960.1:c.168A>G

Select item 141969277219.

rs1419692772 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:83974532 (GRCh38)
9:86589447 (GRCh37)
Canonical SPDI:: NC_000009.12:83974531:G:A
Gene:: HNRNPK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.83974532G>A, NC_000009.11:g.86589447G>A, NG_029577.1:g.11123C>T, NM_002140.5:c.315C>T, NM_002140.4:c.315C>T, NM_002140.3:c.315C>T, NM_031263.4:c.315C>T, NM_031263.3:c.315C>T, NM_031263.2:c.315C>T, NM_031262.4:c.315C>T, NM_031262.3:c.315C>T, NM_031262.2:c.315C>T, NM_001318188.2:c.315C>T, NM_001318188.1:c.315C>T, NM_001318187.2:c.315C>T, NM_001318187.1:c.315C>T, NM_001318186.2:c.315C>T, NM_001318186.1:c.315C>T, XM_005251963.5:c.315C>T, XM_005251963.4:c.315C>T, XM_005251963.3:c.315C>T, XM_005251963.2:c.315C>T, XM_005251963.1:c.315C>T, XM_005251965.4:c.315C>T, XM_005251965.3:c.315C>T, XM_005251965.2:c.315C>T, XM_005251965.1:c.315C>T, XM_005251960.3:c.315C>T, XM_005251960.2:c.315C>T, XM_005251960.1:c.315C>T

Select item 141615290220.

rs1416152902 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 9:83977755 (GRCh38)
9:86592670 (GRCh37)
Canonical SPDI:: NC_000009.12:83977754:T:A,NC_000009.12:83977754:T:C
Gene:: HNRNPK (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.83977755T>A, NC_000009.12:g.83977755T>C, NC_000009.11:g.86592670T>A, NC_000009.11:g.86592670T>C, NG_029577.1:g.7900A>T, NG_029577.1:g.7900A>G, NM_002140.5:c.90A>T, NM_002140.5:c.90A>G, NM_002140.4:c.90A>T, NM_002140.4:c.90A>G, NM_002140.3:c.90A>T, NM_002140.3:c.90A>G, NM_031263.4:c.90A>T, NM_031263.4:c.90A>G, NM_031263.3:c.90A>T, NM_031263.3:c.90A>G, NM_031263.2:c.90A>T, NM_031263.2:c.90A>G, NM_031262.4:c.90A>T, NM_031262.4:c.90A>G, NM_031262.3:c.90A>T, NM_031262.3:c.90A>G, NM_031262.2:c.90A>T, NM_031262.2:c.90A>G, NM_001318188.2:c.90A>T, NM_001318188.2:c.90A>G, NM_001318188.1:c.90A>T, NM_001318188.1:c.90A>G, NM_001318187.2:c.90A>T, NM_001318187.2:c.90A>G, NM_001318187.1:c.90A>T, NM_001318187.1:c.90A>G, NM_001318186.2:c.90A>T, NM_001318186.2:c.90A>G, NM_001318186.1:c.90A>T, NM_001318186.1:c.90A>G, XM_005251963.5:c.90A>T, XM_005251963.5:c.90A>G, XM_005251963.4:c.90A>T, XM_005251963.4:c.90A>G, XM_005251963.3:c.90A>T, XM_005251963.3:c.90A>G, XM_005251963.2:c.90A>T, XM_005251963.2:c.90A>G, XM_005251963.1:c.90A>T, XM_005251963.1:c.90A>G, XM_005251965.4:c.90A>T, XM_005251965.4:c.90A>G, XM_005251965.3:c.90A>T, XM_005251965.3:c.90A>G, XM_005251965.2:c.90A>T, XM_005251965.2:c.90A>G, XM_005251965.1:c.90A>T, XM_005251965.1:c.90A>G, XM_005251960.3:c.90A>T, XM_005251960.3:c.90A>G, XM_005251960.2:c.90A>T, XM_005251960.2:c.90A>G, XM_005251960.1:c.90A>T, XM_005251960.1:c.90A>G, NP_002131.2:p.Glu30Asp, NP_112553.1:p.Glu30Asp, NP_112552.1:p.Glu30Asp, NP_001305117.1:p.Glu30Asp, NP_001305116.1:p.Glu30Asp, NP_001305115.1:p.Glu30Asp, XP_005252020.1:p.Glu30Asp, XP_005252022.1:p.Glu30Asp, XP_005252017.1:p.Glu30Asp

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