Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.103719142G>A , CM000666.2:g.103719142G>A | GRCh38 |
| NC_000004.11:g.104640299G>A , CM000666.1:g.104640299G>A | GRCh37 |
| NC_000004.10:g.104859748G>A | NCBI36 |
| NG_023344.1:g.5675C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304883.3:c.534C>T MANE Select | ENSP00000303325.2:p.Ala178= | |
| ENST00000304883.2:c.534C>T | ENSP00000303325.2:p.Ala178= | |
| NM_001059.2:c.534C>T | NP_001050.1:p.Ala178= | |
| NM_001059.3:c.534C>T MANE Select | NP_001050.1:p.Ala178= |