Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201606480C>A , CM000663.2:g.201606480C>A | GRCh38 |
| NC_000001.10:g.201575608C>A , CM000663.1:g.201575608C>A | GRCh37 |
| NC_000001.9:g.199842231C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685211.1:c.-32-16373C>A MANE Select | ENSP00000510803.1:n.-32-16373C>A | |
| XM_011510103.1:c.-32-16373C>A | XP_011508405.1:n.-32-16373C>A | |
| XM_024450645.1:c.-32-16373C>A | XP_024306413.1:n.-32-16373C>A | |
| NM_001389615.1:c.-32-16373C>A | NP_001376544.1:n.-32-16373C>A | |
| NM_001389616.1:c.-32-16373C>A | NP_001376545.1:n.-32-16373C>A | |
| NM_001389617.1:c.-32-16373C>A MANE Select | NP_001376546.1:n.-32-16373C>A |