Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.98604134C>T , CM000664.2:g.98604134C>T | GRCh38 |
| NC_000002.11:g.99220597C>T , CM000664.1:g.99220597C>T | GRCh37 |
| NC_000002.10:g.98587029C>T | NCBI36 |
| NG_031918.1:g.9385G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001008215.3:c.157G>A MANE Select | NP_001008216.1:p.Ala53Thr |
| ENST00000328709.8:c.157G>A MANE Select | ENSP00000330730.3:p.Ala53Thr |
| NM_001008215.2:c.157G>A | NP_001008216.1:p.Ala53Thr |
| ENST00000328709.7:c.157G>A | ENSP00000330730.3:p.Ala53Thr |
| ENST00000409997.1:c.157G>A | ENSP00000386934.1:p.Ala53Thr |
| ENST00000466848.1:n.134G>A | |
| ENST00000480666.1:n.657G>A | |
| ENST00000483527.5:n.303G>A |