HGVS | Genome Assembly |
---|---|
NC_000021.9:g.41741252C>T , CM000683.2:g.41741252C>T | GRCh38 |
NC_000021.8:g.43161412C>T , CM000683.1:g.43161412C>T | GRCh37 |
NC_000021.7:g.42034481C>T | NCBI36 |
NG_032113.1:g.30838G>A | |
NG_032113.2:g.30838G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000332512.8:c.1941G>A MANE Select | ENSP00000332454.3:p.Thr647= | |
ENST00000332512.7:c.1941G>A | ENSP00000332454.3:p.Thr647= | |
ENST00000352483.3:c.2085G>A | ENSP00000330161.2:p.Thr695= | |
NM_020639.2:c.1941G>A | NP_065690.2:p.Thr647= | |
NM_020639.3:c.1941G>A MANE Select | NP_065690.2:p.Thr647= |