Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.9894539G>A , CM000685.2:g.9894539G>A | GRCh38 |
| NC_000023.10:g.9862579G>A , CM000685.1:g.9862579G>A | GRCh37 |
| NC_000023.9:g.9822579G>A | NCBI36 |
| NG_012493.1:g.113084G>A | |
| NG_012493.2:g.113084G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001649.4:c.631G>A MANE Select | NP_001640.1:p.Gly211Ser |
| ENST00000380913.8:c.631G>A MANE Select | ENSP00000370299.3:p.Gly211Ser |
| NM_001649.2:c.631G>A | NP_001640.1:p.Gly211Ser |
| NM_001649.3:c.631G>A | NP_001640.1:p.Gly211Ser |
| ENST00000380913.7:c.631G>A | ENSP00000370299.3:p.Gly211Ser |
| XM_005274500.3:c.631G>A | XP_005274557.2:p.Gly211Ser |
| XM_005274500.4:c.631G>A | XP_005274557.2:p.Gly211Ser |