HGVS | Genome Assembly |
---|---|
NC_000012.12:g.89350807G>T , CM000674.2:g.89350807G>T | GRCh38 |
NC_000012.11:g.89744584G>T , CM000674.1:g.89744584G>T | GRCh37 |
NC_000012.10:g.88268715G>T | NCBI36 |
NG_033915.1:g.7053C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000279488.8:c.619C>A MANE Select | ENSP00000279488.6:p.Pro207Thr | |
ENST00000279488.7:c.619C>A | ENSP00000279488.6:p.Pro207Thr | |
ENST00000308385.6:c.400+833C>A | ENSP00000307835.6:n.400+833C>A | |
ENST00000547140.1:n.305C>A | ||
ENST00000547291.1:c.244C>A | ENSP00000449838.1:p.Pro82Thr | |
NM_001946.3:c.619C>A | NP_001937.2:p.Pro207Thr | |
NM_022652.3:c.400+833C>A | NP_073143.2:n.400+833C>A | |
NM_001946.4:c.619C>A MANE Select | NP_001937.2:p.Pro207Thr | |
NM_022652.4:c.400+833C>A | NP_073143.2:n.400+833C>A |