Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12695626C>A , CM000671.2:g.12695626C>A | GRCh38 |
| NC_000009.11:g.12695626C>A , CM000671.1:g.12695626C>A | GRCh37 |
| NC_000009.10:g.12685626C>A | NCBI36 |
| NG_011705.1:g.7241C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.497C>A MANE Select | ENSP00000373570.4:p.Ser166Ter | |
| ENST00000388918.9:c.497C>A | ENSP00000373570.4:p.Ser166Ter | |
| NM_000550.2:c.497C>A | NP_000541.1:p.Ser166Ter | |
| XR_001746372.2:n.686C>A | ||
| NM_000550.3:c.497C>A MANE Select | NP_000541.1:p.Ser166Ter |