HGVS | Genome Assembly |
---|---|
NC_000007.14:g.81720907G>T , CM000669.2:g.81720907G>T | GRCh38 |
NC_000007.13:g.81350223G>T , CM000669.1:g.81350223G>T | GRCh37 |
NC_000007.12:g.81188159G>T | NCBI36 |
NG_016274.1:g.54230C>A | |
NG_016274.2:g.54230C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222390.11:c.1169-60C>A MANE Select | ENSP00000222390.5:n.1169-60C>A | |
ENST00000457544.7:c.1154-60C>A | ENSP00000391238.2:n.1154-60C>A | |
ENST00000222390.9:c.1169-60C>A | ENSP00000222390.5:n.1169-60C>A | |
ENST00000457544.6:c.1154-60C>A | ENSP00000391238.2:n.1154-60C>A | |
NM_000601.4:c.1169-60C>A | NP_000592.3:n.1169-60C>A | |
NM_001010932.1:c.1154-60C>A | NP_001010932.1:n.1154-60C>A | |
XM_006715956.2:c.1169-60C>A | XP_006716019.1:n.1169-60C>A | |
XM_011516115.1:c.1154-60C>A | XP_011514417.1:n.1154-60C>A | |
NM_000601.5:c.1169-60C>A | NP_000592.3:n.1169-60C>A | |
NM_001010932.2:c.1154-60C>A | NP_001010932.1:n.1154-60C>A | |
XM_011516115.2:c.1154-60C>A | XP_011514417.1:n.1154-60C>A | |
NM_000601.6:c.1169-60C>A MANE Select | NP_000592.3:n.1169-60C>A | |
NM_001010932.3:c.1154-60C>A | NP_001010932.1:n.1154-60C>A |