HGVS | Genome Assembly |
---|---|
NC_000015.10:g.57965649C>T , CM000677.2:g.57965649C>T | GRCh38 |
NC_000015.9:g.58257847C>T , CM000677.1:g.58257847C>T | GRCh37 |
NC_000015.8:g.56045139C>T | NCBI36 |
NG_012259.1:g.105060G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000249750.9:c.901+76G>A MANE Select | ENSP00000249750.4:n.901+76G>A | |
ENST00000249750.8:c.901+76G>A | ENSP00000249750.4:n.901+76G>A | |
ENST00000347587.7:c.787+76G>A | ENSP00000309623.3:n.787+76G>A | |
ENST00000430119.6:c.*875+76G>A | ENSP00000416754.2:n.*875+76G>A | |
ENST00000537372.5:c.838+76G>A | ENSP00000438296.1:n.838+76G>A | |
ENST00000558231.5:c.814+76G>A | ENSP00000453600.1:n.814+76G>A | |
ENST00000559517.5:c.613+76G>A | ENSP00000453408.1:n.613+76G>A | |
NM_001206897.1:c.838+76G>A | NP_001193826.1:n.838+76G>A | |
NM_003888.3:c.901+76G>A | NP_003879.2:n.901+76G>A | |
NM_170696.2:c.787+76G>A | NP_733797.1:n.787+76G>A | |
NM_170697.2:c.613+76G>A | NP_733798.1:n.613+76G>A | |
NM_003888.4:c.901+76G>A MANE Select | NP_003879.2:n.901+76G>A | |
NM_170696.3:c.787+76G>A | NP_733797.1:n.787+76G>A | |
NM_170697.3:c.613+76G>A | NP_733798.1:n.613+76G>A | |
NM_001206897.2:c.838+76G>A | NP_001193826.1:n.838+76G>A |