HGVS | Genome Assembly |
---|---|
NC_000019.10:g.10960939G>A , CM000681.2:g.10960939G>A | GRCh38 |
NC_000019.9:g.11071615G>A , CM000681.1:g.11071615G>A | GRCh37 |
NC_000019.8:g.10932615G>A | NCBI36 |
NG_011556.2:g.5018G>A | |
NG_011556.3:g.5008G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000642726.1:c.-264G>A | ENSP00000494353.1:n.-264G>A | |
ENST00000643549.1:c.-264G>A | ENSP00000493975.1:n.-264G>A | |
ENST00000644737.1:c.-264G>A | ENSP00000495548.1:n.-264G>A | |
ENST00000646484.1:c.-264G>A | ENSP00000495536.1:n.-264G>A | |
ENST00000646693.1:c.-264G>A | ENSP00000495368.1:n.-264G>A | |
NM_001128844.1:c.-343G>A | NP_001122316.1:n.-343G>A | |
NM_003072.3:c.-267G>A | NP_003063.2:n.-267G>A |