Linked Data
ClinVar Variation Id:
309952
dbSNP Id:
rs756348570
ExAC:
12:57976931 T / G
gnomAD v2:
12-57976931-T-G
gnomAD v3:
12-57583148-T-G
gnomAD v4:
12-57583148-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57583148T>G , CM000674.2:g.57583148T>G | GRCh38 |
| NC_000012.11:g.57976931T>G , CM000674.1:g.57976931T>G | GRCh37 |
| NC_000012.10:g.56263198T>G | NCBI36 |
| NG_008155.1:g.38085T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.3068T>G MANE Select | ENSP00000408979.2:p.Phe1023Cys | |
| ENST00000674619.1:c.3089T>G | ENSP00000502270.1:p.Phe1030Cys | |
| ENST00000674858.1:c.48T>G | ||
| ENST00000674980.1:c.48T>G | ||
| ENST00000675201.1:n.83T>G | ||
| ENST00000675433.1:c.48T>G | ||
| ENST00000675697.1:c.131T>G | ||
| ENST00000675737.1:n.1592T>G | ||
| ENST00000675866.1:c.28+519T>G | ||
| ENST00000675882.1:n.3062T>G | ||
| ENST00000675929.1:n.2097T>G | ||
| ENST00000676265.1:n.161T>G | ||
| ENST00000676437.1:c.564T>G | ||
| ENST00000676457.1:c.2963T>G | ENSP00000501588.1:p.Phe988Cys | |
| ENST00000286452.5:c.2801T>G | ENSP00000286452.5:p.Phe934Cys | |
| ENST00000455537.6:c.3068T>G | ENSP00000408979.2:p.Phe1023Cys | |
| NM_004984.2:c.3068T>G | NP_004975.2:p.Phe1023Cys | |
| NM_001354705.1:c.2801T>G | NP_001341634.1:p.Phe934Cys | |
| NM_004984.3:c.3068T>G | NP_004975.2:p.Phe1023Cys | |
| XR_002957324.1:n.3772T>G | ||
| NM_004984.4:c.3068T>G MANE Select | NP_004975.2:p.Phe1023Cys | |
| NM_001354705.2:c.2801T>G | NP_001341634.1:p.Phe934Cys |