Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107695984G>C , CM000669.2:g.107695984G>C | GRCh38 |
| NC_000007.13:g.107336429G>C , CM000669.1:g.107336429G>C | GRCh37 |
| NC_000007.12:g.107123665G>C | NCBI36 |
| NG_008489.1:g.40350G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000441.2:c.1489G>C MANE Select | NP_000432.1:p.Gly497Arg |
| ENST00000644269.2:c.1489G>C MANE Select | ENSP00000494017.1:p.Gly497Arg |
| NM_000441.1:c.1489G>C | NP_000432.1:p.Gly497Arg |
| ENST00000265715.7:c.1489G>C | ENSP00000265715.3:p.Gly497Arg |
| ENST00000477350.5:n.336G>C | |
| ENST00000480841.5:n.338G>C | |
| ENST00000497446.5:n.504G>C | |
| ENST00000644846.1:c.200G>C | |
| XM_005250425.1:c.1489G>C | XP_005250482.1:p.Gly497Arg |
| XM_005250425.2:c.1489G>C | XP_005250482.1:p.Gly497Arg |
| XM_017012318.1:c.1411G>C | XP_016867807.1:p.Gly471Arg |