Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35134679A>G , CM000681.2:g.35134679A>G | GRCh38 |
| NC_000019.9:g.35625583A>G , CM000681.1:g.35625583A>G | GRCh37 |
| NC_000019.8:g.40317423A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139284.3:c.2T>C MANE Select | NP_644813.1:p.Met1Thr |
| ENST00000310123.8:c.2T>C MANE Select | ENSP00000312273.3:p.Met1Thr |
| NM_139284.2:c.2T>C | NP_644813.1:p.Met1Thr |
| ENST00000310123.7:c.2T>C | ENSP00000312273.3:p.Met1Thr |
| ENST00000392225.7:c.2T>C | ENSP00000376059.3:p.Met1Thr |
| ENST00000493050.5:n.183-122T>C | |
| ENST00000591633.2:c.2T>C | ENSP00000467784.1:p.Met1Thr |
| XM_011526594.1:c.2T>C | XP_011524896.1:p.Met1Thr |