Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72274964A>C , CM000672.2:g.72274964A>C | GRCh38 |
| NC_000010.10:g.74034722A>C , CM000672.1:g.74034722A>C | GRCh37 |
| NC_000010.9:g.73704728A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019058.4:c.475A>C MANE Select | NP_061931.1:p.Ser159Arg |
| ENST00000307365.4:c.475A>C MANE Select | ENSP00000307305.3:p.Ser159Arg |
| NM_019058.2:c.475A>C | NP_061931.1:p.Ser159Arg |
| NM_019058.3:c.475A>C | NP_061931.1:p.Ser159Arg |
| ENST00000307365.3:c.475A>C | ENSP00000307305.3:p.Ser159Arg |
| ENST00000471240.2:n.949A>C | |
| ENST00000473155.2:n.768A>C | |
| ENST00000491934.3:c.475A>C | ENSP00000506356.1:p.Ser159Arg |
| ENST00000681898.1:c.187A>C | ENSP00000506373.1:p.Ser63Arg |