HGVS | Genome Assembly |
---|---|
NC_000012.12:g.4912526T>G , CM000674.2:g.4912526T>G | GRCh38 |
NC_000012.11:g.5021692T>G , CM000674.1:g.5021692T>G | GRCh37 |
NC_000012.10:g.4891953T>G | NCBI36 |
NG_011815.1:g.7620T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382545.5:c.1148T>G MANE Select | ENSP00000371985.3:p.Ile383Ser | |
ENST00000543874.3:n.105+2054T>G | ||
ENST00000639306.1:c.986T>G | ENSP00000492506.1:p.Ile329Ser | |
ENST00000639680.1:c.76+260T>G | ||
ENST00000382545.3:c.1148T>G | ENSP00000371985.3:p.Ile383Ser | |
ENST00000541095.1:n.105+2054T>G | ||
ENST00000543874.2:n.96+2054T>G | ||
NM_000217.2:c.1148T>G | NP_000208.2:p.Ile383Ser | |
NM_000217.3:c.1148T>G MANE Select | NP_000208.2:p.Ile383Ser |