Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15933472C>A , CM000663.2:g.15933472C>A | GRCh38 |
| NC_000001.10:g.16259967C>A , CM000663.1:g.16259967C>A | GRCh37 |
| NC_000001.9:g.16132554C>A | NCBI36 |
| NG_050663.1:g.90609C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015001.3:c.7232C>A MANE Select | NP_055816.2:p.Ser2411Ter |
| ENST00000375759.8:c.7232C>A MANE Select | ENSP00000364912.3:p.Ser2411Ter |
| NM_015001.2:c.7232C>A | NP_055816.2:p.Ser2411Ter |
| ENST00000375759.7:c.7232C>A | ENSP00000364912.3:p.Ser2411Ter |
| ENST00000438066.2:c.*8083C>A | ENSP00000388021.2:n.*8083C>A |
| ENST00000704274.1:c.2829C>A |