HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7525109C>G , CM000681.2:g.7525109C>G | GRCh38 |
NC_000019.9:g.7589995C>G , CM000681.1:g.7589995C>G | GRCh37 |
NC_000019.8:g.7495995C>G | NCBI36 |
NG_015806.1:g.7500C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.180C>G MANE Select | ENSP00000264079.5:p.Gly60= | |
ENST00000264079.10:c.180C>G | ENSP00000264079.5:p.Gly60= | |
ENST00000394321.9:n.260C>G | ||
ENST00000596390.1:n.296C>G | ||
ENST00000601003.1:c.180C>G | ENSP00000469074.1:p.Gly60= | |
NM_020533.2:c.180C>G | NP_065394.1:p.Gly60= | |
NM_020533.3:c.180C>G MANE Select | NP_065394.1:p.Gly60= |