HGVS | Genome Assembly |
---|---|
NC_000001.11:g.40838386A>C , CM000663.2:g.40838386A>C | GRCh38 |
NC_000001.10:g.41304058A>C , CM000663.1:g.41304058A>C | GRCh37 |
NC_000001.9:g.41076645A>C | NCBI36 |
NG_008139.1:g.59375A>C | |
NG_008139.2:g.59375A>C | |
NG_008139.3:g.59600A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000347132.10:c.1951A>C MANE Select | ENSP00000262916.6:p.Ser651Arg | |
ENST00000347132.9:c.1951A>C | ENSP00000262916.6:p.Ser651Arg | |
ENST00000443478.3:c.1532A>C | ||
ENST00000506017.1:n.1270A>C | ||
ENST00000509682.6:c.1789A>C | ENSP00000423756.2:p.Ser597Arg | |
NM_004700.3:c.1951A>C | NP_004691.2:p.Ser651Arg | |
NM_172163.2:c.1789A>C | NP_751895.1:p.Ser597Arg | |
XM_017002792.1:c.934A>C | XP_016858281.1:p.Ser312Arg | |
NM_004700.4:c.1951A>C MANE Select | NP_004691.2:p.Ser651Arg | |
NM_172163.3:c.1789A>C | NP_751895.1:p.Ser597Arg |