Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.229447457C>T , CM000664.2:g.229447457C>T | GRCh38 |
| NC_000002.11:g.230312173C>T , CM000664.1:g.230312173C>T | GRCh37 |
| NC_000002.10:g.230020417C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139072.4:c.1345G>A MANE Select | NP_620711.3:p.Gly449Arg |
| ENST00000341772.5:c.1345G>A MANE Select | ENSP00000345229.4:p.Gly449Arg |
| NM_139072.3:c.1345G>A | NP_620711.3:p.Gly449Arg |
| ENST00000341772.4:c.1345G>A | ENSP00000345229.4:p.Gly449Arg |
| XM_005246950.2:c.1345G>A | XP_005247007.1:p.Gly449Arg |
| XM_005246950.3:c.1345G>A | XP_005247007.1:p.Gly449Arg |