Linked Data
dbSNP Id:
rs144378635
gnomAD v2:
12-57975853-G-T
gnomAD v3:
12-57582070-G-T
gnomAD v4:
12-57582070-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57582070G>T , CM000674.2:g.57582070G>T | GRCh38 |
| NC_000012.11:g.57975853G>T , CM000674.1:g.57975853G>T | GRCh37 |
| NC_000012.10:g.56262120G>T | NCBI36 |
| NG_008155.1:g.37007G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.2992+118G>T MANE Select | ENSP00000408979.2:n.2992+118G>T | |
| ENST00000674619.1:c.3013+118G>T | ENSP00000502270.1:n.3013+118G>T | |
| ENST00000675697.1:c.83+118G>T | ||
| ENST00000675737.1:n.514G>T | ||
| ENST00000675882.1:n.2515+118G>T | ||
| ENST00000675929.1:n.1550+118G>T | ||
| ENST00000676055.1:c.83+118G>T | ||
| ENST00000676437.1:c.17+118G>T | ||
| ENST00000676457.1:c.2887+118G>T | ENSP00000501588.1:n.2887+118G>T | |
| ENST00000286452.5:c.2725+118G>T | ENSP00000286452.5:n.2725+118G>T | |
| ENST00000455537.6:c.2992+118G>T | ENSP00000408979.2:n.2992+118G>T | |
| ENST00000552227.1:n.275+118G>T | ||
| NM_004984.2:c.2992+118G>T | NP_004975.2:n.2992+118G>T | |
| NM_001354705.1:c.2725+118G>T | NP_001341634.1:n.2725+118G>T | |
| NM_004984.3:c.2992+118G>T | NP_004975.2:n.2992+118G>T | |
| XR_002957324.1:n.3225+118G>T | ||
| NM_004984.4:c.2992+118G>T MANE Select | NP_004975.2:n.2992+118G>T | |
| NM_001354705.2:c.2725+118G>T | NP_001341634.1:n.2725+118G>T |