Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.161423949G>A , CM000664.2:g.161423949G>A | GRCh38 |
| NC_000002.11:g.162280460G>A , CM000664.1:g.162280460G>A | GRCh37 |
| NC_000002.10:g.161988706G>A | NCBI36 |
| NG_046904.1:g.12841G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006593.4:c.1771G>A MANE Select | NP_006584.1:p.Ala591Thr |
| ENST00000389554.8:c.1771G>A MANE Select | ENSP00000374205.3:p.Ala591Thr |
| NM_006593.2:c.1771G>A | NP_006584.1:p.Ala591Thr |
| NM_006593.3:c.1771G>A | NP_006584.1:p.Ala591Thr |
| ENST00000389554.7:c.1771G>A | ENSP00000374205.3:p.Ala591Thr |
| ENST00000410035.1:c.910G>A | ENSP00000387023.1:p.Ala304Thr |