Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44251267C>T , CM000679.2:g.44251267C>T | GRCh38 |
| NC_000017.10:g.42328635C>T , CM000679.1:g.42328635C>T | GRCh37 |
| NC_000017.9:g.39684161C>T | NCBI36 |
| NG_007498.1:g.21868G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000342.4:c.2547G>A MANE Select | NP_000333.1:p.Val849= |
| ENST00000262418.12:c.2547G>A MANE Select | ENSP00000262418.6:p.Val849= |
| NM_000342.3:c.2547G>A | NP_000333.1:p.Val849= |
| ENST00000262418.10:c.2547G>A | ENSP00000262418.6:p.Val849= |
| ENST00000399246.3:c.1449G>A | ENSP00000382190.3:p.Val483= |
| XM_005257593.3:c.2352G>A | XP_005257650.1:p.Val784= |
| XM_005257593.5:c.2352G>A | XP_005257650.1:p.Val784= |
| XM_011525129.1:c.2457G>A | XP_011523431.1:p.Val819= |
| XM_011525129.2:c.2457G>A | XP_011523431.1:p.Val819= |