Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82032779C>G , CM000679.2:g.82032779C>G | GRCh38 |
| NC_000017.10:g.79990655C>G , CM000679.1:g.79990655C>G | GRCh37 |
| NC_000017.9:g.77583944C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306897.9:c.176C>G MANE Select | ENSP00000304283.4:p.Ala59Gly | |
| ENST00000306897.8:c.176C>G | ENSP00000304283.4:p.Ala59Gly | |
| ENST00000580965.5:c.44C>G | ENSP00000463590.1:p.Ala15Gly | |
| ENST00000584341.1:c.44C>G | ENSP00000462421.1:p.Ala15Gly | |
| NM_001316307.1:c.176C>G | NP_001303236.1:p.Ala59Gly | |
| NM_005052.2:c.176C>G | NP_005043.1:p.Ala59Gly | |
| NM_005052.3:c.176C>G MANE Select | NP_005043.1:p.Ala59Gly | |
| NM_001316307.2:c.176C>G | NP_001303236.1:p.Ala59Gly |