HGVS | Genome Assembly |
---|---|
NC_000004.12:g.42963240G>T , CM000666.2:g.42963240G>T | GRCh38 |
NC_000004.11:g.42965257G>T , CM000666.1:g.42965257G>T | GRCh37 |
NC_000004.10:g.42660014G>T | NCBI36 |
NG_027718.1:g.74975G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000399770.3:c.627+106G>T MANE Select | ENSP00000382670.2:n.627+106G>T | |
ENST00000399770.2:c.627+106G>T | ENSP00000382670.2:n.627+106G>T | |
NM_001080476.2:c.627+106G>T | NP_001073945.1:n.627+106G>T | |
XM_011513691.1:c.264+106G>T | XP_011511993.1:n.264+106G>T | |
NM_001080476.3:c.627+106G>T MANE Select | NP_001073945.1:n.627+106G>T |