SNP Links for Protein (Select 262359929) - SNP

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Links from Protein

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Select item 14908138291.

rs1490813829 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTC>- [Show Flanks]
Chromosome:: 1:246861989 (GRCh38)
1:247025291 (GRCh37)
Canonical SPDI:: NC_000001.11:246861983:TCTTCTTC:TCTTC
Gene:: AHCTF1 (Varview)
Functional Consequence:: inframe_deletion,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTTC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000012/3 (GnomAD_exomes)
-=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.246861986TTC[1], NC_000001.10:g.247025288TTC[1], NM_015446.5:c.3732AGA[1], NM_015446.4:c.3732AGA[1], XM_011544157.4:c.3810AGA[1], XM_011544157.3:c.3705AGA[1], XM_011544157.2:c.3705AGA[1], XM_011544157.1:c.3810AGA[1], XM_011544156.3:c.3810AGA[1], XM_011544156.2:c.3705AGA[1], XM_011544156.1:c.3810AGA[1], NR_136586.2:n.4083AGA[1], NR_136586.1:n.4113AGA[1], NM_001323342.2:c.3705AGA[1], NM_001323342.1:c.3705AGA[1], NM_001323343.2:c.3705AGA[1], NM_001323343.1:c.3705AGA[1], XM_006711758.1:c.3810AGA[1], NM_001410950.1:c.3810AGA[1], NM_175865.1:c.3810AGA[1], XM_047417231.1:c.3810AGA[1], XM_047417232.1:c.3810AGA[1], NP_056261.4:p.Glu1245del, XP_011542459.3:p.Glu1271del, XP_011542458.3:p.Glu1271del, NP_001310271.1:p.Glu1236del, NP_001310272.1:p.Glu1236del, XP_006711821.1:p.Glu1271del, XP_047273187.1:p.Glu1271del, XP_047273188.1:p.Glu1271del

Select item 14891436582.

rs1489143658 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:246851131 (GRCh38)
1:247014433 (GRCh37)
Canonical SPDI:: NC_000001.11:246851130:T:G
Gene:: AHCTF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.246851131T>G, NC_000001.10:g.247014433T>G, NM_015446.5:c.4902A>C, NM_015446.4:c.4902A>C, XM_011544157.4:c.4980A>C, XM_011544157.3:c.4875A>C, XM_011544157.2:c.4875A>C, XM_011544157.1:c.4980A>C, XM_011544156.3:c.4980A>C, XM_011544156.2:c.4875A>C, XM_011544156.1:c.4980A>C, NR_136586.2:n.5387A>C, NR_136586.1:n.5417A>C, NM_001323342.2:c.4875A>C, NM_001323342.1:c.4875A>C, NM_001323343.2:c.4875A>C, NM_001323343.1:c.4875A>C, XM_006711758.1:c.4980A>C, NM_001410950.1:c.4980A>C, NM_175865.1:c.4983A>C, XM_047417231.1:c.4980A>C, NP_056261.4:p.Lys1634Asn, XP_011542459.3:p.Lys1660Asn, XP_011542458.3:p.Lys1660Asn, NP_001310271.1:p.Lys1625Asn, NP_001310272.1:p.Lys1625Asn, XP_006711821.1:p.Lys1660Asn, XP_047273187.1:p.Lys1660Asn

Select item 14883866733.

rs1488386673 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:246840886 (GRCh38)
1:247004188 (GRCh37)
Canonical SPDI:: NC_000001.11:246840885:C:T
Gene:: AHCTF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.246840886C>T, NC_000001.10:g.247004188C>T, NM_015446.5:c.6748G>A, NM_015446.4:c.6748G>A, XM_011544157.4:c.*72G>A, XM_011544157.3:c.*72G>A, XM_011544157.2:c.*72G>A, XM_011544157.1:c.*72G>A, XM_011544156.3:c.*72G>A, XM_011544156.2:c.*72G>A, XM_011544156.1:c.*72G>A, NR_136586.2:n.7233G>A, NR_136586.1:n.7263G>A, NM_001323342.2:c.6721G>A, NM_001323342.1:c.6721G>A, NM_001323343.2:c.*72G>A, NM_001323343.1:c.*72G>A, XM_006711758.1:c.6826G>A, NM_001410950.1:c.6826G>A, NM_175865.1:c.6829G>A, NP_056261.4:p.Val2250Met, NP_001310271.1:p.Val2241Met, XP_006711821.1:p.Val2276Met

Select item 14882498764.

rs1488249876 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:246876038 (GRCh38)
1:247039340 (GRCh37)
Canonical SPDI:: NC_000001.11:246876037:T:A,NC_000001.11:246876037:T:C
Gene:: AHCTF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.246876038T>A, NC_000001.11:g.246876038T>C, NC_000001.10:g.247039340T>A, NC_000001.10:g.247039340T>C, NM_015446.5:c.3114A>T, NM_015446.5:c.3114A>G, NM_015446.4:c.3114A>T, NM_015446.4:c.3114A>G, XM_011544157.4:c.3192A>T, XM_011544157.4:c.3192A>G, XM_011544157.3:c.3087A>T, XM_011544157.3:c.3087A>G, XM_011544157.2:c.3087A>T, XM_011544157.2:c.3087A>G, XM_011544157.1:c.3192A>T, XM_011544157.1:c.3192A>G, XM_011544156.3:c.3192A>T, XM_011544156.3:c.3192A>G, XM_011544156.2:c.3087A>T, XM_011544156.2:c.3087A>G, XM_011544156.1:c.3192A>T, XM_011544156.1:c.3192A>G, NR_136586.2:n.3465A>T, NR_136586.2:n.3465A>G, NR_136586.1:n.3495A>T, NR_136586.1:n.3495A>G, NM_001323342.2:c.3087A>T, NM_001323342.2:c.3087A>G, NM_001323342.1:c.3087A>T, NM_001323342.1:c.3087A>G, NM_001323343.2:c.3087A>T, NM_001323343.2:c.3087A>G, NM_001323343.1:c.3087A>T, NM_001323343.1:c.3087A>G, XM_006711758.1:c.3192A>T, XM_006711758.1:c.3192A>G, NM_001410950.1:c.3192A>T, NM_001410950.1:c.3192A>G, NM_175865.1:c.3192A>T, NM_175865.1:c.3192A>G, XM_047417231.1:c.3192A>T, XM_047417231.1:c.3192A>G, XM_047417232.1:c.3192A>T, XM_047417232.1:c.3192A>G, NP_056261.4:p.Leu1038Phe, XP_011542459.3:p.Leu1064Phe, XP_011542458.3:p.Leu1064Phe, NP_001310271.1:p.Leu1029Phe, NP_001310272.1:p.Leu1029Phe, XP_006711821.1:p.Leu1064Phe, XP_047273187.1:p.Leu1064Phe, XP_047273188.1:p.Leu1064Phe

Select item 14880237585.

rs1488023758 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:246861004 (GRCh38)
1:247024306 (GRCh37)
Canonical SPDI:: NC_000001.11:246861003:A:G
Gene:: AHCTF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.246861004A>G, NC_000001.10:g.247024306A>G, NM_015446.5:c.4054T>C, NM_015446.4:c.4054T>C, XM_011544157.4:c.4132T>C, XM_011544157.3:c.4027T>C, XM_011544157.2:c.4027T>C, XM_011544157.1:c.4132T>C, XM_011544156.3:c.4132T>C, XM_011544156.2:c.4027T>C, XM_011544156.1:c.4132T>C, NR_136586.2:n.4405T>C, NR_136586.1:n.4435T>C, NM_001323342.2:c.4027T>C, NM_001323342.1:c.4027T>C, NM_001323343.2:c.4027T>C, NM_001323343.1:c.4027T>C, XM_006711758.1:c.4132T>C, NM_001410950.1:c.4132T>C, NM_175865.1:c.4132T>C, XM_047417231.1:c.4132T>C, XM_047417232.1:c.4132T>C, NP_056261.4:p.Ser1352Pro, XP_011542459.3:p.Ser1378Pro, XP_011542458.3:p.Ser1378Pro, NP_001310271.1:p.Ser1343Pro, NP_001310272.1:p.Ser1343Pro, XP_006711821.1:p.Ser1378Pro, XP_047273187.1:p.Ser1378Pro, XP_047273188.1:p.Ser1378Pro

Select item 14874434766.

rs1487443476 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:246916358 (GRCh38)
1:247079660 (GRCh37)
Canonical SPDI:: NC_000001.11:246916357:T:C
Gene:: AHCTF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.246916358T>C, NC_000001.10:g.247079660T>C, NM_015446.5:c.186A>G, NM_015446.4:c.186A>G, XM_011544157.4:c.264A>G, XM_011544157.3:c.159A>G, XM_011544157.2:c.159A>G, XM_011544157.1:c.264A>G, XM_011544156.3:c.264A>G, XM_011544156.2:c.159A>G, XM_011544156.1:c.264A>G, NR_136586.2:n.537A>G, NR_136586.1:n.567A>G, NM_001323342.2:c.159A>G, NM_001323342.1:c.159A>G, NM_001323343.2:c.159A>G, NM_001323343.1:c.159A>G, XM_006711758.1:c.264A>G, NM_001410950.1:c.264A>G, NM_175865.1:c.264A>G, XM_047417231.1:c.264A>G, XM_047417232.1:c.264A>G

Select item 14865324297.

rs1486532429 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:246842766 (GRCh38)
1:247006068 (GRCh37)
Canonical SPDI:: NC_000001.11:246842765:G:A,NC_000001.11:246842765:G:C
Gene:: AHCTF1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.246842766G>A, NC_000001.11:g.246842766G>C, NC_000001.10:g.247006068G>A, NC_000001.10:g.247006068G>C, NM_015446.5:c.6563C>T, NM_015446.5:c.6563C>G, NM_015446.4:c.6563C>T, NM_015446.4:c.6563C>G, XM_011544156.3:c.6641C>T, XM_011544156.3:c.6641C>G, XM_011544156.2:c.6536C>T, XM_011544156.2:c.6536C>G, XM_011544156.1:c.6641C>T, XM_011544156.1:c.6641C>G, NR_136586.2:n.7048C>T, NR_136586.2:n.7048C>G, NR_136586.1:n.7078C>T, NR_136586.1:n.7078C>G, NM_001323342.2:c.6536C>T, NM_001323342.2:c.6536C>G, NM_001323342.1:c.6536C>T, NM_001323342.1:c.6536C>G, NM_001323343.2:c.6536C>T, NM_001323343.2:c.6536C>G, NM_001323343.1:c.6536C>T, NM_001323343.1:c.6536C>G, XM_006711758.1:c.6641C>T, XM_006711758.1:c.6641C>G, NM_001410950.1:c.6641C>T, NM_001410950.1:c.6641C>G, NM_175865.1:c.6644C>T, NM_175865.1:c.6644C>G, XM_047417231.1:c.*3C>T, XM_047417231.1:c.*3C>G, NP_056261.4:p.Ala2188Val, NP_056261.4:p.Ala2188Gly, XP_011542458.3:p.Ala2214Val, XP_011542458.3:p.Ala2214Gly, NP_001310271.1:p.Ala2179Val, NP_001310271.1:p.Ala2179Gly, NP_001310272.1:p.Ala2179Val, NP_001310272.1:p.Ala2179Gly, XP_006711821.1:p.Ala2214Val, XP_006711821.1:p.Ala2214Gly

Select item 14860853308.

rs1486085330 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGAGCTTCTTTCTTCT>- [Show Flanks]
Chromosome:: 1:246849997 (GRCh38)
1:247013299 (GRCh37)
Canonical SPDI:: NC_000001.11:246849994:CTGGGAGCTTCTTTCTTCT:CT
Gene:: AHCTF1 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.246849997_246850013del, NC_000001.10:g.247013299_247013315del, NM_015446.5:c.6022_6038del, NM_015446.4:c.6022_6038del, XM_011544157.4:c.6100_6116del, XM_011544157.3:c.5995_6011del, XM_011544157.2:c.5995_6011del, XM_011544157.1:c.6100_6116del, XM_011544156.3:c.6100_6116del, XM_011544156.2:c.5995_6011del, XM_011544156.1:c.6100_6116del, NR_136586.2:n.6507_6523del, NR_136586.1:n.6537_6553del, NM_001323342.2:c.5995_6011del, NM_001323342.1:c.5995_6011del, NM_001323343.2:c.5995_6011del, NM_001323343.1:c.5995_6011del, XM_006711758.1:c.6100_6116del, NM_001410950.1:c.6100_6116del, NM_175865.1:c.6103_6119del, XM_047417231.1:c.6100_6116del, NP_056261.4:p.Lys2008fs, XP_011542459.3:p.Lys2034fs, XP_011542458.3:p.Lys2034fs, NP_001310271.1:p.Lys1999fs, NP_001310272.1:p.Lys1999fs, XP_006711821.1:p.Lys2034fs, XP_047273187.1:p.Lys2034fs

Select item 14859932139.

rs1485993213 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:246887255 (GRCh38)
1:247050557 (GRCh37)
Canonical SPDI:: NC_000001.11:246887254:T:C
Gene:: AHCTF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.246887255T>C, NC_000001.10:g.247050557T>C, NM_015446.5:c.2455A>G, NM_015446.4:c.2455A>G, XM_011544157.4:c.2533A>G, XM_011544157.3:c.2428A>G, XM_011544157.2:c.2428A>G, XM_011544157.1:c.2533A>G, XM_011544156.3:c.2533A>G, XM_011544156.2:c.2428A>G, XM_011544156.1:c.2533A>G, NR_136586.2:n.2806A>G, NR_136586.1:n.2836A>G, NM_001323342.2:c.2428A>G, NM_001323342.1:c.2428A>G, NM_001323343.2:c.2428A>G, NM_001323343.1:c.2428A>G, XM_006711758.1:c.2533A>G, NM_001410950.1:c.2533A>G, NM_175865.1:c.2533A>G, XM_047417231.1:c.2533A>G, XM_047417232.1:c.2533A>G, NP_056261.4:p.Lys819Glu, XP_011542459.3:p.Lys845Glu, XP_011542458.3:p.Lys845Glu, NP_001310271.1:p.Lys810Glu, NP_001310272.1:p.Lys810Glu, XP_006711821.1:p.Lys845Glu, XP_047273187.1:p.Lys845Glu, XP_047273188.1:p.Lys845Glu

Select item 148586086310.

rs1485860863 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:246890985 (GRCh38)
1:247054287 (GRCh37)
Canonical SPDI:: NC_000001.11:246890984:G:C
Gene:: AHCTF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.246890985G>C, NC_000001.10:g.247054287G>C, NM_015446.5:c.2048C>G, NM_015446.4:c.2048C>G, XM_011544157.4:c.2126C>G, XM_011544157.3:c.2021C>G, XM_011544157.2:c.2021C>G, XM_011544157.1:c.2126C>G, XM_011544156.3:c.2126C>G, XM_011544156.2:c.2021C>G, XM_011544156.1:c.2126C>G, NR_136586.2:n.2399C>G, NR_136586.1:n.2429C>G, NM_001323342.2:c.2021C>G, NM_001323342.1:c.2021C>G, NM_001323343.2:c.2021C>G, NM_001323343.1:c.2021C>G, XM_006711758.1:c.2126C>G, NM_001410950.1:c.2126C>G, NM_175865.1:c.2126C>G, XM_047417231.1:c.2126C>G, XM_047417232.1:c.2126C>G, NP_056261.4:p.Ser683Cys, XP_011542459.3:p.Ser709Cys, XP_011542458.3:p.Ser709Cys, NP_001310271.1:p.Ser674Cys, NP_001310272.1:p.Ser674Cys, XP_006711821.1:p.Ser709Cys, XP_047273187.1:p.Ser709Cys, XP_047273188.1:p.Ser709Cys

Select item 148585868911.

rs1485858689 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:246850618 (GRCh38)
1:247013920 (GRCh37)
Canonical SPDI:: NC_000001.11:246850617:T:C
Gene:: AHCTF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.246850618T>C, NC_000001.10:g.247013920T>C, NM_015446.5:c.5415A>G, NM_015446.4:c.5415A>G, XM_011544157.4:c.5493A>G, XM_011544157.3:c.5388A>G, XM_011544157.2:c.5388A>G, XM_011544157.1:c.5493A>G, XM_011544156.3:c.5493A>G, XM_011544156.2:c.5388A>G, XM_011544156.1:c.5493A>G, NR_136586.2:n.5900A>G, NR_136586.1:n.5930A>G, NM_001323342.2:c.5388A>G, NM_001323342.1:c.5388A>G, NM_001323343.2:c.5388A>G, NM_001323343.1:c.5388A>G, XM_006711758.1:c.5493A>G, NM_001410950.1:c.5493A>G, NM_175865.1:c.5496A>G, XM_047417231.1:c.5493A>G

Select item 148457501512.

rs1484575015 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:246855811 (GRCh38)
1:247019113 (GRCh37)
Canonical SPDI:: NC_000001.11:246855810:T:C
Gene:: AHCTF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.246855811T>C, NC_000001.10:g.247019113T>C, NM_015446.5:c.4300A>G, NM_015446.4:c.4300A>G, XM_011544157.4:c.4378A>G, XM_011544157.3:c.4273A>G, XM_011544157.2:c.4273A>G, XM_011544157.1:c.4378A>G, XM_011544156.3:c.4378A>G, XM_011544156.2:c.4273A>G, XM_011544156.1:c.4378A>G, NR_136586.2:n.4651A>G, NR_136586.1:n.4681A>G, NM_001323342.2:c.4273A>G, NM_001323342.1:c.4273A>G, NM_001323343.2:c.4273A>G, NM_001323343.1:c.4273A>G, XM_006711758.1:c.4378A>G, NM_001410950.1:c.4378A>G, NM_175865.1:c.4381A>G, XM_047417231.1:c.4378A>G, XM_047417232.1:c.4378A>G, NP_056261.4:p.Lys1434Glu, XP_011542459.3:p.Lys1460Glu, XP_011542458.3:p.Lys1460Glu, NP_001310271.1:p.Lys1425Glu, NP_001310272.1:p.Lys1425Glu, XP_006711821.1:p.Lys1460Glu, XP_047273187.1:p.Lys1460Glu, XP_047273188.1:p.Lys1460Glu

Select item 148449555913.

rs1484495559 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:246842710 (GRCh38)
1:247006012 (GRCh37)
Canonical SPDI:: NC_000001.11:246842709:T:C
Gene:: AHCTF1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.246842710T>C, NC_000001.10:g.247006012T>C, NM_015446.5:c.6619A>G, NM_015446.4:c.6619A>G, XM_011544156.3:c.6697A>G, XM_011544156.2:c.6592A>G, XM_011544156.1:c.6697A>G, NR_136586.2:n.7104A>G, NR_136586.1:n.7134A>G, NM_001323342.2:c.6592A>G, NM_001323342.1:c.6592A>G, NM_001323343.2:c.6592A>G, NM_001323343.1:c.6592A>G, XM_006711758.1:c.6697A>G, NM_001410950.1:c.6697A>G, NM_175865.1:c.6700A>G, XM_047417231.1:c.*59A>G, NP_056261.4:p.Thr2207Ala, XP_011542458.3:p.Thr2233Ala, NP_001310271.1:p.Thr2198Ala, NP_001310272.1:p.Thr2198Ala, XP_006711821.1:p.Thr2233Ala

Select item 148409133114.

rs1484091331 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:246850892 (GRCh38)
1:247014194 (GRCh37)
Canonical SPDI:: NC_000001.11:246850891:A:G,NC_000001.11:246850891:A:T
Gene:: AHCTF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.246850892A>G, NC_000001.11:g.246850892A>T, NC_000001.10:g.247014194A>G, NC_000001.10:g.247014194A>T, NM_015446.5:c.5141T>C, NM_015446.5:c.5141T>A, NM_015446.4:c.5141T>C, NM_015446.4:c.5141T>A, XM_011544157.4:c.5219T>C, XM_011544157.4:c.5219T>A, XM_011544157.3:c.5114T>C, XM_011544157.3:c.5114T>A, XM_011544157.2:c.5114T>C, XM_011544157.2:c.5114T>A, XM_011544157.1:c.5219T>C, XM_011544157.1:c.5219T>A, XM_011544156.3:c.5219T>C, XM_011544156.3:c.5219T>A, XM_011544156.2:c.5114T>C, XM_011544156.2:c.5114T>A, XM_011544156.1:c.5219T>C, XM_011544156.1:c.5219T>A, NR_136586.2:n.5626T>C, NR_136586.2:n.5626T>A, NR_136586.1:n.5656T>C, NR_136586.1:n.5656T>A, NM_001323342.2:c.5114T>C, NM_001323342.2:c.5114T>A, NM_001323342.1:c.5114T>C, NM_001323342.1:c.5114T>A, NM_001323343.2:c.5114T>C, NM_001323343.2:c.5114T>A, NM_001323343.1:c.5114T>C, NM_001323343.1:c.5114T>A, XM_006711758.1:c.5219T>C, XM_006711758.1:c.5219T>A, NM_001410950.1:c.5219T>C, NM_001410950.1:c.5219T>A, NM_175865.1:c.5222T>C, NM_175865.1:c.5222T>A, XM_047417231.1:c.5219T>C, XM_047417231.1:c.5219T>A, NP_056261.4:p.Met1714Thr, NP_056261.4:p.Met1714Lys, XP_011542459.3:p.Met1740Thr, XP_011542459.3:p.Met1740Lys, XP_011542458.3:p.Met1740Thr, XP_011542458.3:p.Met1740Lys, NP_001310271.1:p.Met1705Thr, NP_001310271.1:p.Met1705Lys, NP_001310272.1:p.Met1705Thr, NP_001310272.1:p.Met1705Lys, XP_006711821.1:p.Met1740Thr, XP_006711821.1:p.Met1740Lys, XP_047273187.1:p.Met1740Thr, XP_047273187.1:p.Met1740Lys

Select item 148386442015.

rs1483864420 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:246850960 (GRCh38)
1:247014262 (GRCh37)
Canonical SPDI:: NC_000001.11:246850959:T:C
Gene:: AHCTF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.246850960T>C, NC_000001.10:g.247014262T>C, NM_015446.5:c.5073A>G, NM_015446.4:c.5073A>G, XM_011544157.4:c.5151A>G, XM_011544157.3:c.5046A>G, XM_011544157.2:c.5046A>G, XM_011544157.1:c.5151A>G, XM_011544156.3:c.5151A>G, XM_011544156.2:c.5046A>G, XM_011544156.1:c.5151A>G, NR_136586.2:n.5558A>G, NR_136586.1:n.5588A>G, NM_001323342.2:c.5046A>G, NM_001323342.1:c.5046A>G, NM_001323343.2:c.5046A>G, NM_001323343.1:c.5046A>G, XM_006711758.1:c.5151A>G, NM_001410950.1:c.5151A>G, NM_175865.1:c.5154A>G, XM_047417231.1:c.5151A>G

Select item 148370038816.

rs1483700388 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:246913343 (GRCh38)
1:247076645 (GRCh37)
Canonical SPDI:: NC_000001.11:246913342:G:A
Gene:: AHCTF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.246913343G>A, NC_000001.10:g.247076645G>A, NM_015446.5:c.472C>T, NM_015446.4:c.472C>T, XM_011544157.4:c.550C>T, XM_011544157.3:c.445C>T, XM_011544157.2:c.445C>T, XM_011544157.1:c.550C>T, XM_011544156.3:c.550C>T, XM_011544156.2:c.445C>T, XM_011544156.1:c.550C>T, NR_136586.2:n.823C>T, NR_136586.1:n.853C>T, NM_001323342.2:c.445C>T, NM_001323342.1:c.445C>T, NM_001323343.2:c.445C>T, NM_001323343.1:c.445C>T, XM_006711758.1:c.550C>T, NM_001410950.1:c.550C>T, NM_175865.1:c.550C>T, XM_047417231.1:c.550C>T, XM_047417232.1:c.550C>T

Select item 148364934117.

rs1483649341 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:246850157 (GRCh38)
1:247013459 (GRCh37)
Canonical SPDI:: NC_000001.11:246850156:T:G
Gene:: AHCTF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.246850157T>G, NC_000001.10:g.247013459T>G, NM_015446.5:c.5876A>C, NM_015446.4:c.5876A>C, XM_011544157.4:c.5954A>C, XM_011544157.3:c.5849A>C, XM_011544157.2:c.5849A>C, XM_011544157.1:c.5954A>C, XM_011544156.3:c.5954A>C, XM_011544156.2:c.5849A>C, XM_011544156.1:c.5954A>C, NR_136586.2:n.6361A>C, NR_136586.1:n.6391A>C, NM_001323342.2:c.5849A>C, NM_001323342.1:c.5849A>C, NM_001323343.2:c.5849A>C, NM_001323343.1:c.5849A>C, XM_006711758.1:c.5954A>C, NM_001410950.1:c.5954A>C, NM_175865.1:c.5957A>C, XM_047417231.1:c.5954A>C, NP_056261.4:p.Glu1959Ala, XP_011542459.3:p.Glu1985Ala, XP_011542458.3:p.Glu1985Ala, NP_001310271.1:p.Glu1950Ala, NP_001310272.1:p.Glu1950Ala, XP_006711821.1:p.Glu1985Ala, XP_047273187.1:p.Glu1985Ala

Select item 148316992918.

rs1483169929 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:246850489 (GRCh38)
1:247013791 (GRCh37)
Canonical SPDI:: NC_000001.11:246850488:C:T
Gene:: AHCTF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.246850489C>T, NC_000001.10:g.247013791C>T, NM_015446.5:c.5544G>A, NM_015446.4:c.5544G>A, XM_011544157.4:c.5622G>A, XM_011544157.3:c.5517G>A, XM_011544157.2:c.5517G>A, XM_011544157.1:c.5622G>A, XM_011544156.3:c.5622G>A, XM_011544156.2:c.5517G>A, XM_011544156.1:c.5622G>A, NR_136586.2:n.6029G>A, NR_136586.1:n.6059G>A, NM_001323342.2:c.5517G>A, NM_001323342.1:c.5517G>A, NM_001323343.2:c.5517G>A, NM_001323343.1:c.5517G>A, XM_006711758.1:c.5622G>A, NM_001410950.1:c.5622G>A, NM_175865.1:c.5625G>A, XM_047417231.1:c.5622G>A

Select item 148278960119.

rs1482789601 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:246876043 (GRCh38)
1:247039345 (GRCh37)
Canonical SPDI:: NC_000001.11:246876042:G:C
Gene:: AHCTF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.246876043G>C, NC_000001.10:g.247039345G>C, NM_015446.5:c.3109C>G, NM_015446.4:c.3109C>G, XM_011544157.4:c.3187C>G, XM_011544157.3:c.3082C>G, XM_011544157.2:c.3082C>G, XM_011544157.1:c.3187C>G, XM_011544156.3:c.3187C>G, XM_011544156.2:c.3082C>G, XM_011544156.1:c.3187C>G, NR_136586.2:n.3460C>G, NR_136586.1:n.3490C>G, NM_001323342.2:c.3082C>G, NM_001323342.1:c.3082C>G, NM_001323343.2:c.3082C>G, NM_001323343.1:c.3082C>G, XM_006711758.1:c.3187C>G, NM_001410950.1:c.3187C>G, NM_175865.1:c.3187C>G, XM_047417231.1:c.3187C>G, XM_047417232.1:c.3187C>G, NP_056261.4:p.Arg1037Gly, XP_011542459.3:p.Arg1063Gly, XP_011542458.3:p.Arg1063Gly, NP_001310271.1:p.Arg1028Gly, NP_001310272.1:p.Arg1028Gly, XP_006711821.1:p.Arg1063Gly, XP_047273187.1:p.Arg1063Gly, XP_047273188.1:p.Arg1063Gly

Select item 148275899420.

rs1482758994 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:246861265 (GRCh38)
1:247024567 (GRCh37)
Canonical SPDI:: NC_000001.11:246861264:T:C
Gene:: AHCTF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.246861265T>C, NC_000001.10:g.247024567T>C, NM_015446.5:c.3793A>G, NM_015446.4:c.3793A>G, XM_011544157.4:c.3871A>G, XM_011544157.3:c.3766A>G, XM_011544157.2:c.3766A>G, XM_011544157.1:c.3871A>G, XM_011544156.3:c.3871A>G, XM_011544156.2:c.3766A>G, XM_011544156.1:c.3871A>G, NR_136586.2:n.4144A>G, NR_136586.1:n.4174A>G, NM_001323342.2:c.3766A>G, NM_001323342.1:c.3766A>G, NM_001323343.2:c.3766A>G, NM_001323343.1:c.3766A>G, XM_006711758.1:c.3871A>G, NM_001410950.1:c.3871A>G, NM_175865.1:c.3871A>G, XM_047417231.1:c.3871A>G, XM_047417232.1:c.3871A>G, NP_056261.4:p.Thr1265Ala, XP_011542459.3:p.Thr1291Ala, XP_011542458.3:p.Thr1291Ala, NP_001310271.1:p.Thr1256Ala, NP_001310272.1:p.Thr1256Ala, XP_006711821.1:p.Thr1291Ala, XP_047273187.1:p.Thr1291Ala, XP_047273188.1:p.Thr1291Ala

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