Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.191380834G>A , CM000665.2:g.191380834G>A | GRCh38 |
| NC_000003.11:g.191098623G>A , CM000665.1:g.191098623G>A | GRCh37 |
| NC_000003.10:g.192581317G>A | NCBI36 |
| NG_008994.1:g.56750G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392455.9:c.1144G>A MANE Select | ENSP00000376249.4:p.Ala382Thr | |
| ENST00000392456.4:c.616G>A | ENSP00000376250.4:p.Ala206Thr | |
| ENST00000392455.7:c.616G>A | ENSP00000376249.3:p.Ala206Thr | |
| ENST00000392456.3:c.1144G>A | ENSP00000376250.3:p.Ala382Thr | |
| NM_174908.3:c.616G>A | NP_777568.1:p.Ala206Thr | |
| NM_178335.2:c.1144G>A | NP_848018.1:p.Ala382Thr | |
| NM_178335.3:c.1144G>A MANE Select | NP_848018.1:p.Ala382Thr | |
| NM_174908.4:c.616G>A | NP_777568.1:p.Ala206Thr |