Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.36131339A>G , CM000668.2:g.36131339A>G | GRCh38 |
| NC_000006.11:g.36099116A>G , CM000668.1:g.36099116A>G | GRCh37 |
| NC_000006.10:g.36207094A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000211287.9:c.188A>G MANE Select | ENSP00000211287.4:p.Glu63Gly | |
| ENST00000211287.8:c.188A>G | ENSP00000211287.4:p.Glu63Gly | |
| ENST00000373759.1:c.-47A>G | ENSP00000362864.1:n.-47A>G | |
| ENST00000373766.9:c.188A>G | ENSP00000362871.5:p.Glu63Gly | |
| ENST00000476951.5:n.299A>G | ||
| ENST00000490334.1:n.358A>G | ||
| NM_002754.4:c.188A>G | NP_002745.1:p.Glu63Gly | |
| NR_072996.1:n.287A>G | ||
| XM_024446491.1:c.-47A>G | XP_024302259.1:n.-47A>G | |
| NM_002754.5:c.188A>G MANE Select | NP_002745.1:p.Glu63Gly | |
| NR_072996.2:n.258A>G |