HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7530341A>G , CM000681.2:g.7530341A>G | GRCh38 |
NC_000019.9:g.7595227A>G , CM000681.1:g.7595227A>G | GRCh37 |
NC_000019.8:g.7501227A>G | NCBI36 |
NG_013374.1:g.1190A>G | |
NG_015806.1:g.12732A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.1415A>G MANE Select | ENSP00000264079.5:p.Asp472Gly | |
ENST00000264079.10:c.1415A>G | ENSP00000264079.5:p.Asp472Gly | |
ENST00000394321.9:n.1730A>G | ||
ENST00000594692.1:n.411A>G | ||
ENST00000595860.5:n.598A>G | ||
ENST00000599334.1:c.237-94A>G | ||
NM_020533.2:c.1415A>G | NP_065394.1:p.Asp472Gly | |
NM_020533.3:c.1415A>G MANE Select | NP_065394.1:p.Asp472Gly |