HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153690413G>A , CM000685.2:g.153690413G>A | GRCh38 |
NC_000023.10:g.152955868G>A , CM000685.1:g.152955868G>A | GRCh37 |
NC_000023.9:g.152609062G>A | NCBI36 |
NG_012016.1:g.7117G>A | |
NG_012016.2:g.7117G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253122.10:c.301G>A MANE Select | ENSP00000253122.5:p.Gly101Arg | |
ENST00000675713.1:n.55G>A | ||
ENST00000253122.9:c.301G>A | ENSP00000253122.5:p.Gly101Arg | |
ENST00000430077.6:c.-45G>A | ENSP00000403041.2:n.-45G>A | |
ENST00000476466.1:n.153G>A | ||
NM_001142805.1:c.301G>A | NP_001136277.1:p.Gly101Arg | |
NM_001142806.1:c.-45G>A | NP_001136278.1:n.-45G>A | |
NM_005629.3:c.301G>A | NP_005620.1:p.Gly101Arg | |
NM_005629.4:c.301G>A MANE Select | NP_005620.1:p.Gly101Arg | |
NM_001142805.2:c.301G>A | NP_001136277.1:p.Gly101Arg |