HGVS | Genome Assembly |
---|---|
NC_000011.10:g.64747118G>T , CM000673.2:g.64747118G>T | GRCh38 |
NC_000011.9:g.64514590G>T , CM000673.1:g.64514590G>T | GRCh37 |
NC_000011.8:g.64271166G>T | NCBI36 |
NG_007574.1:g.3339C>A , LRG_100:g.3339C>A | |
NG_013018.1:g.18598C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000164139.4:c.2312+106C>A MANE Select | ENSP00000164139.3:n.2312+106C>A | |
ENST00000164139.3:c.2312+106C>A | ENSP00000164139.3:n.2312+106C>A | |
ENST00000377432.7:c.2048+106C>A | ENSP00000366650.3:n.2048+106C>A | |
ENST00000483742.1:n.1665+106C>A | ||
NM_001164716.1:c.2048+106C>A | NP_001158188.1:n.2048+106C>A | |
NM_005609.2:c.2312+106C>A | NP_005600.1:n.2312+106C>A | |
NM_005609.3:c.2312+106C>A | NP_005600.1:n.2312+106C>A | |
NM_005609.4:c.2312+106C>A MANE Select | NP_005600.1:n.2312+106C>A |