HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7454499A>G , CM000679.2:g.7454499A>G | GRCh38 |
NC_000017.10:g.7357818A>G , CM000679.1:g.7357818A>G | GRCh37 |
NC_000017.9:g.7298542A>G | NCBI36 |
NG_008026.1:g.14413A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.1023A>G MANE Select | ENSP00000304290.2:p.Gln341= | |
ENST00000306071.6:c.1023A>G | ENSP00000304290.2:p.Gln341= | |
ENST00000536404.6:c.807A>G | ENSP00000439209.2:p.Gln269= | |
ENST00000570557.5:c.686A>G | ||
ENST00000573209.1:n.1967A>G | ||
ENST00000576360.1:c.660A>G | ENSP00000459092.1:p.Gln220= | |
NM_000747.2:c.1023A>G | NP_000738.2:p.Gln341= | |
NM_000747.3:c.1023A>G MANE Select | NP_000738.2:p.Gln341= |