HGVS | Genome Assembly |
---|---|
NC_000001.11:g.15440613G>T , CM000663.2:g.15440613G>T | GRCh38 |
NC_000001.10:g.15767109G>T , CM000663.1:g.15767109G>T | GRCh37 |
NC_000001.9:g.15639696G>T | NCBI36 |
NG_009253.1:g.7172G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375949.5:c.230+23G>T MANE Select | ENSP00000365116.4:n.230+23G>T | |
ENST00000375943.6:c.41-1834G>T | ENSP00000365110.2:n.41-1834G>T | |
ENST00000375949.4:c.230+23G>T | ENSP00000365116.4:n.230+23G>T | |
ENST00000476813.5:n.53-1834G>T | ||
ENST00000483406.1:n.140+23G>T | ||
NM_007272.2:c.230+23G>T | NP_009203.2:n.230+23G>T | |
XM_011540550.1:c.230+23G>T | XP_011538852.1:n.230+23G>T | |
NM_007272.3:c.230+23G>T MANE Select | NP_009203.2:n.230+23G>T |