Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.119157896G>A , CM000664.2:g.119157896G>A | GRCh38 |
| NC_000002.11:g.119915472G>A , CM000664.1:g.119915472G>A | GRCh37 |
| NC_000002.10:g.119631942G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_182528.4:c.374C>T MANE Select | NP_872334.2:p.Thr125Met |
| ENST00000272520.4:c.374C>T MANE Select | ENSP00000272520.3:p.Thr125Met |
| NM_182528.3:c.374C>T | NP_872334.2:p.Thr125Met |
| ENST00000272520.3:c.374C>T | ENSP00000272520.3:p.Thr125Met |