Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49246763A= , CM000685.2:g.49246763A= | GRCh38 |
| NG_021311.2:g.16299A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376227.4:c.747A= MANE Select | ENSP00000365401.3:p.Gln249= | |
| ENST00000376227.3:c.747A= | ENSP00000365401.3:p.Gln249= | |
| NM_014008.4:c.747A= | NP_054727.1:p.Gln249= | |
| XM_005272599.2:c.744A= | XP_005272656.1:p.Gln248= | |
| XR_430506.1:n.849A= | ||
| XM_005272599.4:c.744A= | XP_005272656.1:p.Gln248= | |
| XR_430506.3:n.862A= | ||
| NM_014008.5:c.747A= MANE Select | NP_054727.1:p.Gln249= |