HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7533534C>G , CM000681.2:g.7533534C>G | GRCh38 |
NC_000019.9:g.7598420C>G , CM000681.1:g.7598420C>G | GRCh37 |
NC_000019.8:g.7504420C>G | NCBI36 |
NG_013374.1:g.4383C>G | |
NG_015806.1:g.15925C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.1587C>G MANE Select | ENSP00000264079.5:p.Gly529= | |
ENST00000264079.10:c.1587C>G | ENSP00000264079.5:p.Gly529= | |
ENST00000394321.9:n.1902C>G | ||
ENST00000599334.1:c.315C>G | ||
ENST00000602227.1:n.141C>G | ||
NM_020533.2:c.1587C>G | NP_065394.1:p.Gly529= | |
NM_020533.3:c.1587C>G MANE Select | NP_065394.1:p.Gly529= |