HGVS | Genome Assembly |
---|---|
NC_000012.12:g.110913224C>T , CM000674.2:g.110913224C>T | GRCh38 |
NC_000012.11:g.111351028C>T , CM000674.1:g.111351028C>T | GRCh37 |
NC_000012.10:g.109835411C>T | NCBI36 |
NG_007554.1:g.12354G>A , LRG_393:g.12354G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000228841.15:c.353+22G>A MANE Select | ENSP00000228841.8:n.353+22G>A | |
ENST00000663220.1:c.296+22G>A | ENSP00000499568.1:n.296+22G>A | |
ENST00000228841.12:c.353+22G>A | ENSP00000228841.7:n.353+22G>A | |
ENST00000548438.1:c.311+22G>A | ENSP00000447154.1:n.311+22G>A | |
ENST00000549029.1:n.206G>A | ||
NM_000432.3:c.353+22G>A , LRG_393t1:c.353+22G>A | NP_000423.2:n.353+22G>A | |
NM_000432.4:c.353+22G>A MANE Select | NP_000423.2:n.353+22G>A |