HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43172110T>C , CM000683.2:g.43172110T>C | GRCh38 |
NG_009823.1:g.8080T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291554.6:c.352T>C MANE Select | ENSP00000291554.2:p.Tyr118His | |
ENST00000398132.1:c.241T>C | ENSP00000381200.1:p.Tyr81His | |
ENST00000398133.5:c.292T>C | ENSP00000381201.1:p.Tyr98His | |
ENST00000468016.1:n.453T>C | ||
ENST00000482775.1:n.433T>C | ||
NM_000394.3:c.352T>C | NP_000385.1:p.Tyr118His | |
XM_005261093.2:c.241T>C | XP_005261150.1:p.Tyr81His | |
NM_001363766.1:c.241T>C | NP_001350695.1:p.Tyr81His | |
NM_000394.4:c.352T>C MANE Select | NP_000385.1:p.Tyr118His |