Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940467C>G , CM000678.2:g.67940467C>G | GRCh38 |
| NC_000016.9:g.67974370C>G , CM000678.1:g.67974370C>G | GRCh37 |
| NC_000016.8:g.66531871C>G | NCBI36 |
| NG_009778.1:g.8646G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.760G>C MANE Select | ENSP00000264005.5:p.Gly254Arg | |
| ENST00000264005.9:c.760G>C | ENSP00000264005.5:p.Gly254Arg | |
| ENST00000570369.5:c.156-393G>C | ||
| ENST00000570980.1:c.544G>C | ENSP00000464651.1:p.Gly182Arg | |
| ENST00000573538.5:c.498G>C | ENSP00000463220.1:n.498G>C | |
| NM_000229.1:c.760G>C | NP_000220.1:p.Gly254Arg | |
| NM_000229.2:c.760G>C MANE Select | NP_000220.1:p.Gly254Arg |