HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52652149T>A , CM000674.2:g.52652149T>A | GRCh38 |
NC_000012.11:g.53045933T>A , CM000674.1:g.53045933T>A | GRCh37 |
NC_000012.10:g.51332200T>A | NCBI36 |
NG_008296.1:g.5027A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309680.4:c.-7A>T MANE Select | ENSP00000310861.3:n.-7A>T | |
ENST00000309680.3:c.-7A>T | ENSP00000310861.3:n.-7A>T | |
NM_000423.2:c.-7A>T | NP_000414.2:n.-7A>T | |
NM_000423.3:c.-7A>T MANE Select | NP_000414.2:n.-7A>T |