HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7526808T>G , CM000681.2:g.7526808T>G | GRCh38 |
NC_000019.9:g.7591694T>G , CM000681.1:g.7591694T>G | GRCh37 |
NC_000019.8:g.7497694T>G | NCBI36 |
NG_015806.1:g.9199T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.453T>G MANE Select | ENSP00000264079.5:p.Arg151= | |
ENST00000264079.10:c.453T>G | ENSP00000264079.5:p.Arg151= | |
ENST00000394321.9:n.533T>G | ||
ENST00000596008.1:n.415T>G | ||
ENST00000598406.1:n.274T>G | ||
ENST00000601003.1:c.453T>G | ENSP00000469074.1:p.Arg151= | |
NM_020533.2:c.453T>G | NP_065394.1:p.Arg151= | |
NM_020533.3:c.453T>G MANE Select | NP_065394.1:p.Arg151= |