Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161219116C>A , CM000663.2:g.161219116C>A | GRCh38 |
| NC_000001.10:g.161188906C>A , CM000663.1:g.161188906C>A | GRCh37 |
| NC_000001.9:g.159455530C>A | NCBI36 |
| NG_029043.1:g.8820C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289902.2:c.*173C>A MANE Select | ENSP00000289902.1:n.*173C>A | |
| ENST00000289902.1:c.*173C>A | ENSP00000289902.1:n.*173C>A | |
| ENST00000367992.7:c.198+393C>A | ENSP00000356971.3:n.198+393C>A | |
| ENST00000490414.1:n.430C>A | ||
| NM_004106.1:c.*173C>A | NP_004097.1:n.*173C>A | |
| NM_004106.2:c.*173C>A MANE Select | NP_004097.1:n.*173C>A |