HGVS | Genome Assembly |
---|---|
NC_000013.11:g.28659152G>A , CM000675.2:g.28659152G>A | GRCh38 |
NC_000013.10:g.29233289G>A , CM000675.1:g.29233289G>A | GRCh37 |
NC_000013.9:g.28131289G>A | NCBI36 |
NG_027550.1:g.5149G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000697716.1:c.-118G>A | ENSP00000513414.1:n.-118G>A | |
ENST00000697717.1:c.-33G>A | ENSP00000513415.1:n.-33G>A | |
ENST00000697718.1:c.-33G>A | ENSP00000513416.1:n.-33G>A | |
ENST00000380842.5:c.-33G>A MANE Select | ENSP00000370222.4:n.-33G>A | |
ENST00000380842.4:c.-33G>A | ENSP00000370222.4:n.-33G>A | |
ENST00000460403.1:n.49G>A | ||
NM_015932.5:c.-33G>A | NP_057016.1:n.-33G>A | |
NM_015932.6:c.-33G>A MANE Select | NP_057016.1:n.-33G>A |