Linked Data
ClinVar Variation Id:
474661
ClinVar RCV Id:
RCV000538474
dbSNP Id:
rs1275662909
gnomAD v2:
8-101190054-C-A
gnomAD v3:
8-100177826-C-A
gnomAD v4:
8-100177826-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.100177826C>A , CM000670.2:g.100177826C>A | GRCh38 |
| NC_000008.10:g.101190054C>A , CM000670.1:g.101190054C>A | GRCh37 |
| NC_000008.9:g.101259230C>A | NCBI36 |
| NG_033834.1:g.24792C>A | |
| NG_033834.2:g.24792C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388798.7:c.311C>A MANE Select | ENSP00000373450.3:p.Ser104Ter | |
| ENST00000251809.4:c.311C>A | ENSP00000251809.3:p.Ser104Ter | |
| ENST00000388798.6:c.311C>A | ENSP00000373450.2:p.Ser104Ter | |
| ENST00000520508.5:c.311C>A | ENSP00000428070.1:p.Ser104Ter | |
| ENST00000520643.5:c.311C>A | ENSP00000427716.1:p.Ser104Ter | |
| NM_003114.4:c.311C>A | NP_003105.2:p.Ser104Ter | |
| NM_172218.2:c.311C>A | NP_757367.1:p.Ser104Ter | |
| XM_011517240.1:c.311C>A | XP_011515542.1:p.Ser104Ter | |
| XM_011517241.1:c.311C>A | XP_011515543.1:p.Ser104Ter | |
| XM_011517242.1:c.311C>A | XP_011515544.1:p.Ser104Ter | |
| XM_011517243.1:c.311C>A | XP_011515545.1:p.Ser104Ter | |
| XM_011517244.1:c.311C>A | XP_011515546.1:p.Ser104Ter | |
| XM_011517245.1:c.311C>A | XP_011515547.1:p.Ser104Ter | |
| XM_011517240.2:c.311C>A | XP_011515542.1:p.Ser104Ter | |
| XM_011517241.2:c.311C>A | XP_011515543.1:p.Ser104Ter | |
| XM_011517242.2:c.311C>A | XP_011515544.1:p.Ser104Ter | |
| XM_011517243.2:c.311C>A | XP_011515545.1:p.Ser104Ter | |
| XM_011517245.2:c.311C>A | XP_011515547.1:p.Ser104Ter | |
| XM_017013754.1:c.416C>A | XP_016869243.1:p.Ser139Ter | |
| XM_017013755.1:c.-26C>A | XP_016869244.1:n.-26C>A | |
| XR_001745580.1:n.397C>A | ||
| XR_001745581.1:n.397C>A | ||
| XR_001745582.1:n.397C>A | ||
| XR_001745583.1:n.397C>A | ||
| NM_001374321.1:c.311C>A | NP_001361250.1:p.Ser104Ter | |
| NM_003114.5:c.311C>A MANE Select | NP_003105.2:p.Ser104Ter | |
| NM_172218.3:c.311C>A | NP_757367.1:p.Ser104Ter |