Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912504G>C , CM000674.2:g.4912504G>C | GRCh38 |
| NC_000012.11:g.5021670G>C , CM000674.1:g.5021670G>C | GRCh37 |
| NC_000012.10:g.4891931G>C | NCBI36 |
| NG_011815.1:g.7598G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000217.3:c.1126G>C MANE Select | NP_000208.2:p.Gly376Arg |
| ENST00000382545.5:c.1126G>C MANE Select | ENSP00000371985.3:p.Gly376Arg |
| NM_000217.2:c.1126G>C | NP_000208.2:p.Gly376Arg |
| ENST00000382545.3:c.1126G>C | ENSP00000371985.3:p.Gly376Arg |
| ENST00000541095.1:n.105+2032G>C | |
| ENST00000543874.2:n.96+2032G>C | |
| ENST00000543874.3:n.105+2032G>C | |
| ENST00000639306.1:c.964G>C | ENSP00000492506.1:p.Gly322Arg |
| ENST00000639680.1:c.76+238G>C |