HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74920081T>A , CM000679.2:g.74920081T>A | GRCh38 |
NC_000017.10:g.72916176T>A , CM000679.1:g.72916176T>A | GRCh37 |
NC_000017.9:g.70427771T>A | NCBI36 |
NG_007882.1:g.8176A>T | |
NG_033062.1:g.807T>A | |
NG_007882.2:g.8183A>T | |
NG_033062.2:g.807T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614341.5:c.755A>T MANE Select | ENSP00000480279.1:p.Asp252Val | |
ENST00000579243.1:c.*354A>T | ENSP00000462568.1:n.*354A>T | |
ENST00000614341.4:c.755A>T | ENSP00000480279.1:p.Asp252Val | |
NM_001282489.2:c.446A>T | NP_001269418.1:p.Asp149Val | |
NM_173477.4:c.755A>T | NP_775748.2:p.Asp252Val | |
XM_011524296.1:c.446A>T | XP_011522598.1:p.Asp149Val | |
XM_011524296.2:c.446A>T | XP_011522598.1:p.Asp149Val | |
NM_173477.5:c.755A>T MANE Select | NP_775748.2:p.Asp252Val | |
NM_001282489.3:c.446A>T | NP_001269418.1:p.Asp149Val |