Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.214378051T>C , CM000663.2:g.214378051T>C | GRCh38 |
| NC_000001.10:g.214551394T>C , CM000663.1:g.214551394T>C | GRCh37 |
| NC_000001.9:g.212618017T>C | NCBI36 |
| NG_028036.1:g.178631A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005401.5:c.2596A>G MANE Select | NP_005392.2:p.Met866Val |
| ENST00000366956.10:c.2596A>G MANE Select | ENSP00000355923.4:p.Met866Val |
| NM_005401.4:c.2596A>G | NP_005392.2:p.Met866Val |
| ENST00000366956.9:c.2596A>G | ENSP00000355923.4:p.Met866Val |
| ENST00000543945.5:c.*1872A>G | ENSP00000443330.1:n.*1872A>G |
| XM_017001941.1:c.2596A>G | XP_016857430.1:p.Met866Val |
| XM_024448759.1:c.2596A>G | XP_024304527.1:p.Met866Val |
| XR_247032.3:n.3170A>G |