Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189062909C>T , CM000664.2:g.189062909C>T | GRCh38 |
| NC_000002.11:g.189927635C>T , CM000664.1:g.189927635C>T | GRCh37 |
| NC_000002.10:g.189635880C>T | NCBI36 |
| NG_011799.1:g.121971G>A | |
| NG_011799.2:g.121971G>A | |
| NG_011799.3:g.167393G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.1933G>A MANE Select | ENSP00000364000.3:p.Gly645Arg | |
| ENST00000374866.7:c.1933G>A | ENSP00000364000.3:p.Gly645Arg | |
| ENST00000470524.2:n.39G>A | ||
| ENST00000618828.1:c.772G>A | ENSP00000482184.1:p.Gly258Arg | |
| NM_000393.3:c.1933G>A | NP_000384.2:p.Gly645Arg | |
| XM_011510573.1:c.1795G>A | XP_011508875.1:p.Gly599Arg | |
| NM_000393.4:c.1933G>A | NP_000384.2:p.Gly645Arg | |
| XM_011510573.3:c.1795G>A | XP_011508875.1:p.Gly599Arg | |
| NM_000393.5:c.1933G>A MANE Select | NP_000384.2:p.Gly645Arg |