HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153690497C>A , CM000685.2:g.153690497C>A | GRCh38 |
NC_000023.10:g.152955952C>A , CM000685.1:g.152955952C>A | GRCh37 |
NC_000023.9:g.152609146C>A | NCBI36 |
NG_012016.1:g.7201C>A | |
NG_012016.2:g.7201C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253122.10:c.385C>A MANE Select | ENSP00000253122.5:p.Leu129Met | |
ENST00000675713.1:n.139C>A | ||
ENST00000253122.9:c.385C>A | ENSP00000253122.5:p.Leu129Met | |
ENST00000430077.6:c.40C>A | ENSP00000403041.2:p.Leu14Met | |
ENST00000476466.1:n.237C>A | ||
NM_001142805.1:c.385C>A | NP_001136277.1:p.Leu129Met | |
NM_001142806.1:c.40C>A | NP_001136278.1:p.Leu14Met | |
NM_005629.3:c.385C>A | NP_005620.1:p.Leu129Met | |
NM_005629.4:c.385C>A MANE Select | NP_005620.1:p.Leu129Met | |
NM_001142805.2:c.385C>A | NP_001136277.1:p.Leu129Met |