Linked Data
ClinVar Variation Id:
12845
dbSNP Id:
rs121918635
gnomAD v2:
1-158641925-T-G
gnomAD v3:
1-158672135-T-G
gnomAD v4:
1-158672135-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158672135T>G , CM000663.2:g.158672135T>G | GRCh38 |
| NC_000001.10:g.158641925T>G , CM000663.1:g.158641925T>G | GRCh37 |
| NC_000001.9:g.156908549T>G | NCBI36 |
| NG_011474.1:g.19582A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000643759.2:c.1412A>C MANE Select | ENSP00000495214.1:p.Gln471Pro | |
| ENST00000368147.8:c.1412A>C | ENSP00000357129.4:p.Gln471Pro | |
| ENST00000614909.4:c.1412A>C | ENSP00000482595.1:p.Gln471Pro | |
| NM_003126.2:c.1412A>C | NP_003117.2:p.Gln471Pro | |
| XM_011509916.1:c.1412A>C | XP_011508218.1:p.Gln471Pro | |
| XM_011509917.1:c.1412A>C | XP_011508219.1:p.Gln471Pro | |
| XM_011509918.1:c.1412A>C | XP_011508220.1:p.Gln471Pro | |
| XM_011509919.1:c.1412A>C | XP_011508221.1:p.Gln471Pro | |
| XR_921911.1:n.1525A>C | ||
| XR_921912.1:n.1530A>C | ||
| NM_003126.3:c.1412A>C | NP_003117.2:p.Gln471Pro | |
| XM_011509916.2:c.1412A>C | XP_011508218.1:p.Gln471Pro | |
| XM_011509917.3:c.1412A>C | XP_011508219.1:p.Gln471Pro | |
| XM_011509918.3:c.1412A>C | XP_011508220.1:p.Gln471Pro | |
| XM_011509919.3:c.1412A>C | XP_011508221.1:p.Gln471Pro | |
| XR_921911.3:n.1538A>C | ||
| XR_921912.2:n.1540A>C | ||
| NM_003126.4:c.1412A>C MANE Select | NP_003117.2:p.Gln471Pro |