Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532367T>A , CM000665.2:g.129532367T>A | GRCh38 |
| NC_000003.11:g.129251210T>A , CM000665.1:g.129251210T>A | GRCh37 |
| NC_000003.10:g.130733900T>A | NCBI36 |
| NG_009115.1:g.8729T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000539.3:c.647T>A MANE Select | NP_000530.1:p.Met216Lys |
| ENST00000296271.4:c.647T>A MANE Select | ENSP00000296271.3:p.Met216Lys |
| ENST00000296271.3:c.647T>A | ENSP00000296271.3:p.Met216Lys |