HGVS | Genome Assembly |
---|---|
NC_000022.11:g.36564884G= , CM000684.2:g.36564884G= | GRCh38 |
NC_000022.10:g.36960931G= , CM000684.1:g.36960931G= | GRCh37 |
NC_000022.9:g.35290877G= | NCBI36 |
NG_031861.1:g.142760C= | |
NG_031861.2:g.142975C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000300105.7:c.439C= MANE Select | ENSP00000300105.6:p.Leu147= | |
ENST00000300105.6:c.439C= | ENSP00000300105.6:p.Leu147= | |
NM_006078.3:c.439C= | NP_006069.1:p.Leu147= | |
NM_006078.4:c.439C= | NP_006069.1:p.Leu147= | |
XM_017028531.2:c.181C= | XP_016884020.1:p.Leu61= | |
NM_001379051.1:c.370C= | NP_001365980.1:p.Leu124= | |
NM_006078.5:c.439C= MANE Select | NP_006069.1:p.Leu147= | |
NR_166440.1:n.1805C= |