Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45824369C>T , CM000682.2:g.45824369C>T | GRCh38 |
| NC_000020.10:g.44453008C>T , CM000682.1:g.44453008C>T | GRCh37 |
| NC_000020.9:g.43886415C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003279.3:c.237G>A MANE Select | NP_003270.1:p.Met79Ile |
| ENST00000372555.8:c.237G>A MANE Select | ENSP00000361636.3:p.Met79Ile |
| NM_003279.2:c.237G>A | NP_003270.1:p.Met79Ile |
| ENST00000372555.7:c.237G>A | ENSP00000361636.3:p.Met79Ile |
| ENST00000372557.1:c.192G>A | ENSP00000361638.1:p.Met64Ile |
| XM_011529031.1:c.192G>A | XP_011527333.1:p.Met64Ile |
| XM_011529031.2:c.192G>A | XP_011527333.1:p.Met64Ile |