Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38253202C>A , CM000677.2:g.38253202C>A | GRCh38 |
| NC_000015.9:g.38545403C>A , CM000677.1:g.38545403C>A | GRCh37 |
| NC_000015.8:g.36332695C>A | NCBI36 |
| NG_008980.1:g.5352C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.17C>A MANE Select | ENSP00000299084.4:p.Ala6Glu | |
| ENST00000299084.8:c.17C>A | ENSP00000299084.4:p.Ala6Glu | |
| ENST00000561205.1:n.355C>A | ||
| ENST00000561317.1:c.-111C>A | ENSP00000453680.1:n.-111C>A | |
| NM_152594.2:c.17C>A | NP_689807.1:p.Ala6Glu | |
| XM_005254202.2:c.17C>A | XP_005254259.1:p.Ala6Glu | |
| XM_005254203.3:c.-31C>A | XP_005254260.1:n.-31C>A | |
| XM_005254202.3:c.17C>A | XP_005254259.1:p.Ala6Glu | |
| XR_001751484.1:n.87+365G>T | ||
| NM_152594.3:c.17C>A MANE Select | NP_689807.1:p.Ala6Glu |