Linked Data
ClinVar Variation Id:
309958
dbSNP Id:
rs150199729
gnomAD v2:
12-57978290-G-T
gnomAD v3:
12-57584507-G-T
gnomAD v4:
12-57584507-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57584507G>T , CM000674.2:g.57584507G>T | GRCh38 |
| NC_000012.11:g.57978290G>T , CM000674.1:g.57978290G>T | GRCh37 |
| NC_000012.10:g.56264557G>T | NCBI36 |
| NG_008155.1:g.39444G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.*326G>T MANE Select | ENSP00000408979.2:n.*326G>T | |
| ENST00000674619.1:c.*326G>T | ENSP00000502270.1:n.*326G>T | |
| ENST00000674980.1:c.116-623G>T | ||
| ENST00000675433.1:c.116-1099G>T | ||
| ENST00000675697.1:c.488G>T | ||
| ENST00000675737.1:n.1949G>T | ||
| ENST00000675866.1:c.318G>T | ||
| ENST00000675882.1:n.3419G>T | ||
| ENST00000675929.1:n.2454G>T | ||
| ENST00000676437.1:c.1923G>T | ||
| ENST00000676457.1:c.*326G>T | ENSP00000501588.1:n.*326G>T | |
| ENST00000286452.5:c.*326G>T | ENSP00000286452.5:n.*326G>T | |
| ENST00000455537.6:c.*326G>T | ENSP00000408979.2:n.*326G>T | |
| NM_004984.2:c.*326G>T | NP_004975.2:n.*326G>T | |
| NM_001354705.1:c.*326G>T | NP_001341634.1:n.*326G>T | |
| NM_004984.3:c.*326G>T | NP_004975.2:n.*326G>T | |
| XR_002957324.1:n.4129G>T | ||
| NM_004984.4:c.*326G>T MANE Select | NP_004975.2:n.*326G>T | |
| NM_001354705.2:c.*326G>T | NP_001341634.1:n.*326G>T |