HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128395124G>T , CM000667.2:g.128395124G>T | GRCh38 |
NC_000005.9:g.127730817G>T , CM000667.1:g.127730817G>T | GRCh37 |
NC_000005.8:g.127758716G>T | NCBI36 |
NG_008750.1:g.147919C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703787.1:n.936C>A | ||
ENST00000262464.9:c.1229C>A MANE Select | ENSP00000262464.4:p.Ser410Tyr | |
ENST00000262464.8:c.1229C>A | ENSP00000262464.4:p.Ser410Tyr | |
ENST00000508053.5:c.1229C>A | ENSP00000424571.1:p.Ser410Tyr | |
ENST00000508989.5:c.1130C>A | ENSP00000425596.1:p.Ser377Tyr | |
ENST00000619499.4:c.1226C>A | ENSP00000482132.1:p.Ser409Tyr | |
NM_001999.3:c.1229C>A | NP_001990.2:p.Ser410Tyr | |
XM_017009228.2:c.1079-1756C>A | XP_016864717.1:n.1079-1756C>A | |
NM_001999.4:c.1229C>A MANE Select | NP_001990.2:p.Ser410Tyr |