HGVS | Genome Assembly |
---|---|
NC_000013.11:g.20189210C>T , CM000675.2:g.20189210C>T | GRCh38 |
NC_000013.10:g.20763349C>T , CM000675.1:g.20763349C>T | GRCh37 |
NC_000013.9:g.19661349C>T | NCBI36 |
NG_008358.1:g.8766G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382844.2:c.372G>A | ENSP00000372295.1:p.Gln124= | |
ENST00000382848.5:c.372G>A MANE Select | ENSP00000372299.4:p.Gln124= | |
ENST00000382844.1:c.372G>A | ENSP00000372295.1:p.Gln124= | |
ENST00000382848.4:c.372G>A | ENSP00000372299.4:p.Gln124= | |
NM_004004.5:c.372G>A | NP_003995.2:p.Gln124= | |
XM_011535049.1:c.372G>A | XP_011533351.1:p.Gln124= | |
XM_011535049.2:c.372G>A | XP_011533351.1:p.Gln124= | |
NM_004004.6:c.372G>A MANE Select | NP_003995.2:p.Gln124= |