Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124873830T>G , CM000673.2:g.124873830T>G | GRCh38 |
| NC_000011.9:g.124743726T>G , CM000673.1:g.124743726T>G | GRCh37 |
| NC_000011.8:g.124248936T>G | NCBI36 |
| NG_016214.1:g.13422T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022370.4:c.1752T>G MANE Select | NP_071765.2:p.Ala584= |
| ENST00000397801.6:c.1752T>G MANE Select | ENSP00000380903.1:p.Ala584= |
| NM_022370.3:c.1752T>G | NP_071765.2:p.Ala584= |
| ENST00000397801.5:c.1752T>G | ENSP00000380903.1:p.Ala584= |
| ENST00000538940.5:c.1686T>G | ENSP00000441797.1:p.Ala562= |
| XM_011542953.1:c.2724T>G | XP_011541255.1:p.Ala908= |
| XM_017018122.1:c.1686T>G | XP_016873611.1:p.Ala562= |