HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74920046G>T , CM000679.2:g.74920046G>T | GRCh38 |
NC_000017.10:g.72916141G>T , CM000679.1:g.72916141G>T | GRCh37 |
NC_000017.9:g.70427736G>T | NCBI36 |
NG_007882.1:g.8211C>A | |
NG_033062.1:g.772G>T | |
NG_007882.2:g.8218C>A | |
NG_033062.2:g.772G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614341.5:c.790C>A MANE Select | ENSP00000480279.1:p.Pro264Thr | |
ENST00000579243.1:c.*389C>A | ENSP00000462568.1:n.*389C>A | |
ENST00000614341.4:c.790C>A | ENSP00000480279.1:p.Pro264Thr | |
NM_001282489.2:c.481C>A | NP_001269418.1:p.Pro161Thr | |
NM_173477.4:c.790C>A | NP_775748.2:p.Pro264Thr | |
XM_011524296.1:c.481C>A | XP_011522598.1:p.Pro161Thr | |
XM_011524296.2:c.481C>A | XP_011522598.1:p.Pro161Thr | |
NM_173477.5:c.790C>A MANE Select | NP_775748.2:p.Pro264Thr | |
NM_001282489.3:c.481C>A | NP_001269418.1:p.Pro161Thr |