HGVS | Genome Assembly |
---|---|
NC_000023.11:g.119930097A>G , CM000685.2:g.119930097A>G | GRCh38 |
NC_000023.10:g.119064060A>G , CM000685.1:g.119064060A>G | GRCh37 |
NC_000023.9:g.118948088A>G | NCBI36 |
NG_021260.1:g.18676T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371410.5:c.992T>C MANE Select | ENSP00000360464.3:p.Ile331Thr | |
ENST00000652253.1:c.988T>C | ||
ENST00000371410.4:c.992T>C | ENSP00000360464.3:p.Ile331Thr | |
ENST00000477789.5:n.1920T>C | ||
NM_024528.3:c.992T>C | NP_078804.2:p.Ile331Thr | |
XM_017029842.1:c.695T>C | XP_016885331.1:p.Ile232Thr | |
NM_024528.4:c.992T>C MANE Select | NP_078804.2:p.Ile331Thr |