Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160195952T>A , CM000663.2:g.160195952T>A | GRCh38 |
| NC_000001.10:g.160165742T>A , CM000663.1:g.160165742T>A | GRCh37 |
| NC_000001.9:g.158432366T>A | NCBI36 |
| NG_042040.1:g.10458T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001231.5:c.707T>A MANE Select | NP_001222.3:p.Met236Lys |
| ENST00000368078.8:c.707T>A MANE Select | ENSP00000357057.3:p.Met236Lys |
| NM_001231.4:c.707T>A | NP_001222.3:p.Met236Lys |
| ENST00000368078.7:c.707T>A | ENSP00000357057.3:p.Met236Lys |
| ENST00000481081.1:n.592T>A |