HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74919589T>G , CM000679.2:g.74919589T>G | GRCh38 |
NC_000017.10:g.72915684T>G , CM000679.1:g.72915684T>G | GRCh37 |
NC_000017.9:g.70427279T>G | NCBI36 |
NG_007882.1:g.8668A>C | |
NG_033062.1:g.315T>G | |
NG_007882.2:g.8675A>C | |
NG_033062.2:g.315T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614341.5:c.1247A>C MANE Select | ENSP00000480279.1:p.Glu416Ala | |
ENST00000579243.1:c.*846A>C | ENSP00000462568.1:n.*846A>C | |
ENST00000614341.4:c.1247A>C | ENSP00000480279.1:p.Glu416Ala | |
NM_001282489.2:c.938A>C | NP_001269418.1:p.Glu313Ala | |
NM_173477.4:c.1247A>C | NP_775748.2:p.Glu416Ala | |
XM_011524296.1:c.938A>C | XP_011522598.1:p.Glu313Ala | |
XM_011524296.2:c.938A>C | XP_011522598.1:p.Glu313Ala | |
NM_173477.5:c.1247A>C MANE Select | NP_775748.2:p.Glu416Ala | |
NM_001282489.3:c.938A>C | NP_001269418.1:p.Glu313Ala |