Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75724413C>T , CM000663.2:g.75724413C>T | GRCh38 |
| NC_000001.10:g.76190098C>T , CM000663.1:g.76190098C>T | GRCh37 |
| NC_000001.9:g.75962686C>T | NCBI36 |
| NG_007045.2:g.5056C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370841.8:c.-375C>T | ENSP00000359878.4:n.-375C>T | |
| ENST00000541113.5:c.-395C>T | ENSP00000442324.1:n.-395C>T | |
| NM_000016.5:c.-375C>T | NP_000007.1:n.-375C>T | |
| NM_001127328.2:c.-375C>T | NP_001120800.1:n.-375C>T | |
| NM_001286042.1:c.-395C>T | NP_001272971.1:n.-395C>T | |
| NM_001286043.1:c.-375C>T | NP_001272972.1:n.-375C>T | |
| NM_001286044.1:c.-672C>T | NP_001272973.1:n.-672C>T |