Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445606G= , CM000663.2:g.15445606G= | GRCh38 |
| NC_000001.10:g.15772101G= , CM000663.1:g.15772101G= | GRCh37 |
| NC_000001.9:g.15644688G= | NCBI36 |
| NG_009253.1:g.12164G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.649G= MANE Select | ENSP00000365116.4:p.Gly217= | |
| ENST00000375943.6:c.*103G= | ENSP00000365110.2:n.*103G= | |
| ENST00000375949.4:c.649G= | ENSP00000365116.4:p.Gly217= | |
| ENST00000483406.1:n.413G= | ||
| NM_007272.2:c.649G= | NP_009203.2:p.Gly217= | |
| XM_011540550.1:c.503G= | XP_011538852.1:p.Arg168= | |
| NM_007272.3:c.649G= MANE Select | NP_009203.2:p.Gly217= |