Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72274966C>G , CM000672.2:g.72274966C>G | GRCh38 |
| NC_000010.10:g.74034724C>G , CM000672.1:g.74034724C>G | GRCh37 |
| NC_000010.9:g.73704730C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019058.4:c.477C>G MANE Select | NP_061931.1:p.Ser159Arg |
| ENST00000307365.4:c.477C>G MANE Select | ENSP00000307305.3:p.Ser159Arg |
| NM_019058.2:c.477C>G | NP_061931.1:p.Ser159Arg |
| NM_019058.3:c.477C>G | NP_061931.1:p.Ser159Arg |
| ENST00000307365.3:c.477C>G | ENSP00000307305.3:p.Ser159Arg |
| ENST00000471240.2:n.951C>G | |
| ENST00000473155.2:n.770C>G | |
| ENST00000491934.3:c.477C>G | ENSP00000506356.1:p.Ser159Arg |
| ENST00000681898.1:c.189C>G | ENSP00000506373.1:p.Ser63Arg |