HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7533412A>G , CM000681.2:g.7533412A>G | GRCh38 |
NC_000019.9:g.7598298A>G , CM000681.1:g.7598298A>G | GRCh37 |
NC_000019.8:g.7504298A>G | NCBI36 |
NG_013374.1:g.4261A>G | |
NG_015806.1:g.15803A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264079.11:c.1576-111A>G MANE Select | ENSP00000264079.5:n.1576-111A>G | |
ENST00000264079.10:c.1576-111A>G | ENSP00000264079.5:n.1576-111A>G | |
ENST00000394321.9:n.1891-111A>G | ||
ENST00000599334.1:c.304-111A>G | ||
ENST00000602227.1:n.19A>G | ||
NM_020533.2:c.1576-111A>G | NP_065394.1:n.1576-111A>G | |
NM_020533.3:c.1576-111A>G MANE Select | NP_065394.1:n.1576-111A>G |