Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55401277G>C , CM000669.2:g.55401277G>C | GRCh38 |
| NC_000007.13:g.55468970G>C , CM000669.1:g.55468970G>C | GRCh37 |
| NC_000007.12:g.55436464G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254770.3:c.782G>C MANE Select | ENSP00000254770.2:p.Gly261Ala | |
| ENST00000254770.2:c.782G>C | ENSP00000254770.2:p.Gly261Ala | |
| ENST00000452107.6:c.884G>C | ||
| NM_018697.3:c.782G>C | NP_061167.1:p.Gly261Ala | |
| XM_011515448.1:c.521G>C | XP_011513750.1:p.Gly174Ala | |
| NM_018697.4:c.782G>C MANE Select | NP_061167.1:p.Gly261Ala |