Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65029612A>G , CM000677.2:g.65029612A>G | GRCh38 |
| NC_000015.9:g.65321950A>G , CM000677.1:g.65321950A>G | GRCh37 |
| NC_000015.8:g.63109003A>G | NCBI36 |
| NG_029184.1:g.5028T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139242.4:c.2T>C MANE Select | NP_640335.2:p.Met1Thr |
| ENST00000220058.9:c.2T>C MANE Select | ENSP00000220058.4:p.Met1Thr |
| NM_139242.3:c.2T>C | NP_640335.2:p.Met1Thr |
| ENST00000220058.8:c.2T>C | ENSP00000220058.4:p.Met1Thr |
| ENST00000543678.1:c.2T>C | ENSP00000443754.1:p.Met1Thr |
| ENST00000558460.5:c.2T>C | ENSP00000452646.1:p.Met1Thr |
| XM_005254158.5:c.2T>C | XP_005254215.2:p.Met1Thr |
| XR_001751081.1:n.17T>C |