HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153690501T>G , CM000685.2:g.153690501T>G | GRCh38 |
NC_000023.10:g.152955956T>G , CM000685.1:g.152955956T>G | GRCh37 |
NC_000023.9:g.152609150T>G | NCBI36 |
NG_012016.1:g.7205T>G | |
NG_012016.2:g.7205T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253122.10:c.389T>G MANE Select | ENSP00000253122.5:p.Phe130Cys | |
ENST00000675713.1:n.143T>G | ||
ENST00000253122.9:c.389T>G | ENSP00000253122.5:p.Phe130Cys | |
ENST00000430077.6:c.44T>G | ENSP00000403041.2:p.Phe15Cys | |
ENST00000476466.1:n.241T>G | ||
NM_001142805.1:c.389T>G | NP_001136277.1:p.Phe130Cys | |
NM_001142806.1:c.44T>G | NP_001136278.1:p.Phe15Cys | |
NM_005629.3:c.389T>G | NP_005620.1:p.Phe130Cys | |
NM_005629.4:c.389T>G MANE Select | NP_005620.1:p.Phe130Cys | |
NM_001142805.2:c.389T>G | NP_001136277.1:p.Phe130Cys |