HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41624332A= , CM000679.2:g.41624332A= | GRCh38 |
NC_000017.10:g.39780584A= , CM000679.1:g.39780584A= | GRCh37 |
NC_000017.9:g.37034110A= | NCBI36 |
NG_008625.1:g.5299T= | |
NG_009090.2:g.167381T= , LRG_401:g.167381T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311208.13:c.178T= MANE Select | ENSP00000308452.8:p.Cys60= | |
ENST00000311208.12:c.178T= | ENSP00000308452.8:p.Cys60= | |
ENST00000463128.5:c.-312-126T= | ENSP00000468672.1:n.-312-126T= | |
ENST00000491673.1:n.244T= | ||
ENST00000540235.5:c.-28T= | ENSP00000441751.2:n.-28T= | |
ENST00000577817.3:c.133T= | ENSP00000467418.1:p.Cys45= | |
NM_000422.2:c.178T= | NP_000413.1:p.Cys60= | |
NM_000422.3:c.178T= MANE Select | NP_000413.1:p.Cys60= |