HGVS | Genome Assembly |
---|---|
NC_000001.11:g.226636516C>T , CM000663.2:g.226636516C>T | GRCh38 |
NC_000001.10:g.226824217C>T , CM000663.1:g.226824217C>T | GRCh37 |
NC_000001.9:g.224890840C>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000272117.8:c.2625+1163G>A | ENSP00000272117.3:n.2625+1163G>A | |
ENST00000429204.6:c.2625+1163G>A MANE Select | ENSP00000411152.1:n.2625+1163G>A | |
ENST00000272117.7:c.2625+1163G>A | ENSP00000272117.3:n.2625+1163G>A | |
ENST00000429204.5:c.2625+1163G>A | ENSP00000411152.1:n.2625+1163G>A | |
NM_002221.3:c.2625+1163G>A | NP_002212.3:n.2625+1163G>A | |
NM_002221.4:c.2625+1163G>A MANE Select | NP_002212.3:n.2625+1163G>A |