SNP Links for Protein (Select 110611235) - SNP

Links from Protein

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Select item 14885720851.

rs1488572085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:45509358 (GRCh38)
21:46929272 (GRCh37)
Canonical SPDI:: NC_000021.9:45509357:C:T
Gene:: SLC19A1 (Varview), COL18A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.45509358C>T, NC_000021.8:g.46929272C>T, NG_028278.2:g.58786G>A, NW_025791815.1:g.126584C>T, NG_011903.1:g.109167C>T, NM_030582.4:c.3783C>T, NM_030582.3:c.3783C>T, NM_130444.3:c.4488C>T, NM_130444.2:c.4488C>T, NM_130444.1:c.3654C>T, NM_130445.2:c.3243C>T, NM_001379500.1:c.3252C>T, NM_130445.4:c.3243C>T, NM_130445.3:c.3243C>T

Select item 14880588942.

rs1488058894 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:45505921 (GRCh38)
21:46925835 (GRCh37)
Canonical SPDI:: NC_000021.9:45505920:G:A
Gene:: SLC19A1 (Varview), COL18A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Clinical significance:: likely-benign
HGVS:: NC_000021.9:g.45505921G>A, NC_000021.8:g.46925835G>A, NG_028278.2:g.62223C>T, NW_025791815.1:g.123147G>A, NG_011903.1:g.105730G>A, NM_030582.4:c.3702G>A, NM_030582.3:c.3702G>A, NM_130444.3:c.4407G>A, NM_130444.2:c.4407G>A, NM_130444.1:c.3573G>A, NM_130445.2:c.3162G>A, NM_001379500.1:c.3171G>A, NM_130445.4:c.3162G>A, NM_130445.3:c.3162G>A

Select item 14854329283.

rs1485432928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:45480703 (GRCh38)
21:46900617 (GRCh37)
Canonical SPDI:: NC_000021.9:45480702:C:T
Gene:: COL18A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.45480703C>T, NC_000021.8:g.46900617C>T, NG_011903.1:g.80521C>T, NM_030582.4:c.1996C>T, NM_030582.3:c.1996C>T, NM_130444.3:c.2701C>T, NM_130444.2:c.2701C>T, NM_130444.1:c.1867C>T, NM_130445.2:c.1456C>T, NM_001379500.1:c.1456C>T, NW_025791815.1:g.97938C>T, NM_130445.4:c.1456C>T, NM_130445.3:c.1456C>T, NP_085059.2:p.Pro666Ser, NP_569711.2:p.Pro901Ser, NP_001366429.1:p.Pro486Ser

Select item 14833748054.

rs1483374805 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 21:45476358 (GRCh38)
21:46896272 (GRCh37)
Canonical SPDI:: NC_000021.9:45476357:CCC:CC
Gene:: COL18A1 (Varview), MIR6815 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.45476360del, NC_000021.8:g.46896274del, NG_011903.1:g.76178del, NM_030582.4:c.1348del, NM_030582.3:c.1348del, NM_130444.3:c.2053del, NM_130444.2:c.2053del, NM_130444.1:c.1348del, NM_130445.2:c.808del, NM_001379500.1:c.808del, NW_025791815.1:g.93595del, NM_130445.4:c.808del, NM_130445.3:c.808del, NP_085059.2:p.Ala449_Leu450insTer, NP_569711.2:p.Ala684_Leu685insTer, NP_001366429.1:p.Ala269_Leu270insTer

Select item 14829216695.

rs1482921669 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:45477757 (GRCh38)
21:46897671 (GRCh37)
Canonical SPDI:: NC_000021.9:45477756:T:C
Gene:: COL18A1 (Varview), MIR6815 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.00005/1 (ALFA)
HGVS:: NC_000021.9:g.45477757T>C, NC_000021.8:g.46897671T>C, NG_011903.1:g.77575T>C, NM_030582.4:c.1553T>C, NM_030582.3:c.1553T>C, NM_130444.3:c.2258T>C, NM_130444.2:c.2258T>C, NM_130444.1:c.1553T>C, NM_130445.2:c.1013T>C, NM_001379500.1:c.1013T>C, NW_025791815.1:g.94992T>C, NM_130445.4:c.1013T>C, NM_130445.3:c.1013T>C, NP_085059.2:p.Leu518Pro, NP_569711.2:p.Leu753Pro, NP_001366429.1:p.Leu338Pro

Select item 14825054806.

rs1482505480 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:45468587 (GRCh38)
21:46888501 (GRCh37)
Canonical SPDI:: NC_000021.9:45468586:C:T
Gene:: COL18A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.45468587C>T, NC_000021.8:g.46888501C>T, NG_011903.1:g.68405C>T, NM_030582.4:c.992C>T, NM_030582.3:c.992C>T, NM_130444.3:c.1697C>T, NM_130444.2:c.1697C>T, NM_130444.1:c.992C>T, NM_130445.2:c.452C>T, NM_001379500.1:c.452C>T, NW_025791815.1:g.85822C>T, NM_130445.4:c.452C>T, NM_130445.3:c.452C>T, NP_085059.2:p.Ala331Val, NP_569711.2:p.Ala566Val, NP_001366429.1:p.Ala151Val

Select item 14824810037.

rs1482481003 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:45504437 (GRCh38)
21:46924351 (GRCh37)
Canonical SPDI:: NC_000021.9:45504436:G:C
Gene:: SLC19A1 (Varview), COL18A1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.45504437G>C, NC_000021.8:g.46924351G>C, NG_028278.2:g.63707C>G, NW_025791815.1:g.121672G>C, NG_011903.1:g.104255G>C, NM_030582.4:c.3289G>C, NM_030582.3:c.3289G>C, NM_130444.3:c.3994G>C, NM_130444.2:c.3994G>C, NM_130444.1:c.3160G>C, NM_130445.2:c.2749G>C, NM_001379500.1:c.2749G>C, NM_130445.4:c.2749G>C, NM_130445.3:c.2749G>C, NP_085059.2:p.Asp1097His, NP_569711.2:p.Asp1332His, NP_001366429.1:p.Asp917His

Select item 14818589868.

rs1481858986 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:45492706 (GRCh38)
21:46912620 (GRCh37)
Canonical SPDI:: NC_000021.9:45492705:G:A
Gene:: COL18A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.45492706G>A, NC_000021.8:g.46912620G>A, NG_011903.1:g.92524G>A, NM_030582.4:c.2747G>A, NM_030582.3:c.2747G>A, NM_130444.3:c.3452G>A, NM_130444.2:c.3452G>A, NM_130444.1:c.2618G>A, NM_130445.2:c.2207G>A, NM_001379500.1:c.2207G>A, NW_025791815.1:g.109941G>A, NM_130445.4:c.2207G>A, NM_130445.3:c.2207G>A, NP_085059.2:p.Gly916Asp, NP_569711.2:p.Gly1151Asp, NP_001366429.1:p.Gly736Asp

Select item 14797162889.

rs1479716288 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 21:45512394 (GRCh38)
21:46932308 (GRCh37)
Canonical SPDI:: NC_000021.9:45512393:A:C,NC_000021.9:45512393:A:G
Gene:: SLC19A1 (Varview), COL18A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.45512394A>C, NC_000021.9:g.45512394A>G, NC_000021.8:g.46932308A>C, NC_000021.8:g.46932308A>G, NG_028278.2:g.55750T>G, NG_028278.2:g.55750T>C, NW_025791815.1:g.129620A>C, NW_025791815.1:g.129620A>G, NG_011903.1:g.112203A>C, NG_011903.1:g.112203A>G, NM_030582.4:c.4547A>C, NM_030582.4:c.4547A>G, NM_030582.3:c.4547A>C, NM_030582.3:c.4547A>G, NM_130444.3:c.5252A>C, NM_130444.3:c.5252A>G, NM_130444.2:c.5252A>C, NM_130444.2:c.5252A>G, NM_130444.1:c.4418A>C, NM_130444.1:c.4418A>G, NM_130445.2:c.4007A>C, NM_130445.2:c.4007A>G, NM_001379500.1:c.4016A>C, NM_001379500.1:c.4016A>G, NM_130445.4:c.4007A>C, NM_130445.4:c.4007A>G, NM_130445.3:c.4007A>C, NM_130445.3:c.4007A>G, NM_016214.1:c.551A>C, NM_016214.1:c.551A>G, NP_085059.2:p.Lys1516Thr, NP_085059.2:p.Lys1516Arg, NP_569711.2:p.Lys1751Thr, NP_569711.2:p.Lys1751Arg, NP_001366429.1:p.Lys1339Thr, NP_001366429.1:p.Lys1339Arg

Select item 147880744010.

rs1478807440 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:45497075 (GRCh38)
21:46916989 (GRCh37)
Canonical SPDI:: NC_000021.9:45497074:G:A
Gene:: COL18A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000021.9:g.45497075G>A, NC_000021.8:g.46916989G>A, NG_011903.1:g.96893G>A, NM_030582.4:c.3143G>A, NM_030582.3:c.3143G>A, NM_130444.3:c.3848G>A, NM_130444.2:c.3848G>A, NM_130444.1:c.3014G>A, NM_130445.2:c.2603G>A, NM_001379500.1:c.2603G>A, NW_025791815.1:g.114310G>A, NM_130445.4:c.2603G>A, NM_130445.3:c.2603G>A, NP_085059.2:p.Gly1048Glu, NP_569711.2:p.Gly1283Glu, NP_001366429.1:p.Gly868Glu

Select item 147860153111.

rs1478601531 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGGGGCCGACTTCCAGTGCTTCCAGCAGGCGCGGGCCG>- [Show Flanks]
Chromosome:: 21:45510117 (GRCh38)
21:46930031 (GRCh37)
Canonical SPDI:: NC_000021.9:45510113:CCGCGGGGCCGACTTCCAGTGCTTCCAGCAGGCGCGGGCCG:CCG
Gene:: SLC19A1 (Varview), COL18A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant,intron_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: CCG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.45510117_45510154del, NC_000021.8:g.46930031_46930068del, NG_028278.2:g.57993_58030del, NW_025791815.1:g.127343_127380del, NG_011903.1:g.109926_109963del, NM_030582.4:c.4080_4117del, NM_030582.3:c.4080_4117del, NM_130444.3:c.4785_4822del, NM_130444.2:c.4785_4822del, NM_130444.1:c.3951_3988del, NM_130445.2:c.3540_3577del, NM_001379500.1:c.3549_3586del, NM_130445.4:c.3540_3577del, NM_130445.3:c.3540_3577del, NM_016214.1:c.84_121del, NP_085059.2:p.Asp1363fs, NP_569711.2:p.Asp1598fs, NP_001366429.1:p.Asp1186fs

Select item 147836965212.

rs1478369652 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:45505276 (GRCh38)
21:46925190 (GRCh37)
Canonical SPDI:: NC_000021.9:45505275:A:G
Gene:: SLC19A1 (Varview), COL18A1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.45505276A>G, NC_000021.8:g.46925190A>G, NG_028278.2:g.62868T>C, NW_025791815.1:g.122502A>G, NG_011903.1:g.105085A>G, NM_030582.4:c.3542A>G, NM_030582.3:c.3542A>G, NM_130444.3:c.4247A>G, NM_130444.2:c.4247A>G, NM_130444.1:c.3413A>G, NM_130445.2:c.3002A>G, NM_001379500.1:c.3011A>G, NM_130445.4:c.3002A>G, NM_130445.3:c.3002A>G, NP_085059.2:p.Gln1181Arg, NP_569711.2:p.Gln1416Arg, NP_001366429.1:p.Gln1004Arg

Select item 147833722313.

rs1478337223 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:45512358 (GRCh38)
21:46932272 (GRCh37)
Canonical SPDI:: NC_000021.9:45512357:T:C
Gene:: SLC19A1 (Varview), COL18A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant,downstream_transcript_variant
HGVS:: NC_000021.9:g.45512358T>C, NC_000021.8:g.46932272T>C, NG_028278.2:g.55786A>G, NW_025791815.1:g.129584T>C, NG_011903.1:g.112167T>C, NM_030582.4:c.4511T>C, NM_030582.3:c.4511T>C, NM_130444.3:c.5216T>C, NM_130444.2:c.5216T>C, NM_130444.1:c.4382T>C, NM_130445.2:c.3971T>C, NM_001379500.1:c.3980T>C, NM_130445.4:c.3971T>C, NM_130445.3:c.3971T>C, NM_016214.1:c.515T>C, NP_085059.2:p.Val1504Ala, NP_569711.2:p.Val1739Ala, NP_001366429.1:p.Val1327Ala

Select item 147745311514.

rs1477453115 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:45456015 (GRCh38)
21:46875929 (GRCh37)
Canonical SPDI:: NC_000021.9:45456014:A:G
Gene:: COL18A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.45456015A>G, NC_000021.8:g.46875929A>G, NG_011903.1:g.55833A>G, NM_030582.4:c.485A>G, NM_030582.3:c.485A>G, NM_130444.3:c.485A>G, NM_130444.2:c.485A>G, NM_130444.1:c.485A>G, NW_025791815.1:g.73250A>G, NP_085059.2:p.Gln162Arg, NP_569711.2:p.Gln162Arg

Select item 147734796715.

rs1477347967 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 21:45456105 (GRCh38)
21:46876019 (GRCh37)
Canonical SPDI:: NC_000021.9:45456104:CCCC:CCC
Gene:: COL18A1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.45456108del, NC_000021.8:g.46876022del, NG_011903.1:g.55926del, NM_030582.4:c.578del, NM_030582.3:c.578del, NM_130444.3:c.578del, NM_130444.2:c.578del, NM_130444.1:c.578del, NW_025791815.1:g.73343del, NP_085059.2:p.Pro193fs, NP_569711.2:p.Pro193fs

Select item 147720346716.

rs1477203467 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:45476404 (GRCh38)
21:46896318 (GRCh37)
Canonical SPDI:: NC_000021.9:45476403:C:T
Gene:: COL18A1 (Varview), MIR6815 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000021.9:g.45476404C>T, NC_000021.8:g.46896318C>T, NG_011903.1:g.76222C>T, NM_030582.4:c.1392C>T, NM_030582.3:c.1392C>T, NM_130444.3:c.2097C>T, NM_130444.2:c.2097C>T, NM_130444.1:c.1392C>T, NM_130445.2:c.852C>T, NM_001379500.1:c.852C>T, NW_025791815.1:g.93639C>T, NM_130445.4:c.852C>T, NM_130445.3:c.852C>T

Select item 147691354517.

rs1476913545 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 21:45487454 (GRCh38)
21:46907368 (GRCh37)
Canonical SPDI:: NC_000021.9:45487453:T:A,NC_000021.9:45487453:T:C
Gene:: COL18A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.45487454T>A, NC_000021.9:g.45487454T>C, NC_000021.8:g.46907368T>A, NC_000021.8:g.46907368T>C, NG_011903.1:g.87272T>A, NG_011903.1:g.87272T>C, NM_030582.4:c.2381T>A, NM_030582.4:c.2381T>C, NM_030582.3:c.2381T>A, NM_030582.3:c.2381T>C, NM_130444.3:c.3086T>A, NM_130444.3:c.3086T>C, NM_130444.2:c.3086T>A, NM_130444.2:c.3086T>C, NM_130444.1:c.2252T>A, NM_130444.1:c.2252T>C, NM_130445.2:c.1841T>A, NM_130445.2:c.1841T>C, NM_001379500.1:c.1841T>A, NM_001379500.1:c.1841T>C, NW_025791815.1:g.104689T>A, NW_025791815.1:g.104689T>C, NM_130445.4:c.1841T>A, NM_130445.4:c.1841T>C, NM_130445.3:c.1841T>A, NM_130445.3:c.1841T>C, NP_085059.2:p.Met794Lys, NP_085059.2:p.Met794Thr, NP_569711.2:p.Met1029Lys, NP_569711.2:p.Met1029Thr, NP_001366429.1:p.Met614Lys, NP_001366429.1:p.Met614Thr

Select item 147648588718.

rs1476485887 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:45482023 (GRCh38)
21:46901937 (GRCh37)
Canonical SPDI:: NC_000021.9:45482022:C:G
Gene:: COL18A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.45482023C>G, NC_000021.8:g.46901937C>G, NG_011903.1:g.81841C>G, NM_030582.4:c.2212C>G, NM_030582.3:c.2212C>G, NM_130444.3:c.2917C>G, NM_130444.2:c.2917C>G, NM_130444.1:c.2083C>G, NM_130445.2:c.1672C>G, NM_001379500.1:c.1672C>G, NW_025791815.1:g.99258C>G, NM_130445.4:c.1672C>G, NM_130445.3:c.1672C>G, NP_085059.2:p.Leu738Val, NP_569711.2:p.Leu973Val, NP_001366429.1:p.Leu558Val

Select item 147563683319.

rs1475636833 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:45505424 (GRCh38)
21:46925338 (GRCh37)
Canonical SPDI:: NC_000021.9:45505423:C:G
Gene:: SLC19A1 (Varview), COL18A1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000021.9:g.45505424C>G, NC_000021.8:g.46925338C>G, NG_028278.2:g.62720G>C, NW_025791815.1:g.122650C>G, NG_011903.1:g.105233C>G, NM_030582.4:c.3611C>G, NM_030582.3:c.3611C>G, NM_130444.3:c.4316C>G, NM_130444.2:c.4316C>G, NM_130444.1:c.3482C>G, NM_130445.2:c.3071C>G, NM_001379500.1:c.3080C>G, NM_130445.4:c.3071C>G, NM_130445.3:c.3071C>G, NP_085059.2:p.Ser1204Cys, NP_569711.2:p.Ser1439Cys, NP_001366429.1:p.Ser1027Cys

Select item 147549059020.

rs1475490590 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 21:45455541 (GRCh38)
21:46875455 (GRCh37)
Canonical SPDI:: NC_000021.9:45455540:A:C,NC_000021.9:45455540:A:G
Gene:: COL18A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.45455541A>C, NC_000021.9:g.45455541A>G, NC_000021.8:g.46875455A>C, NC_000021.8:g.46875455A>G, NG_011903.1:g.55359A>C, NG_011903.1:g.55359A>G, NM_030582.4:c.11A>C, NM_030582.4:c.11A>G, NM_030582.3:c.11A>C, NM_030582.3:c.11A>G, NM_130444.3:c.11A>C, NM_130444.3:c.11A>G, NM_130444.2:c.11A>C, NM_130444.2:c.11A>G, NM_130444.1:c.11A>C, NM_130444.1:c.11A>G, NW_025791815.1:g.72776A>C, NW_025791815.1:g.72776A>G, NP_085059.2:p.Tyr4Ser, NP_085059.2:p.Tyr4Cys, NP_569711.2:p.Tyr4Ser, NP_569711.2:p.Tyr4Cys

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