HGVS | Genome Assembly |
---|---|
NC_000012.12:g.110914217C>T , CM000674.2:g.110914217C>T | GRCh38 |
NC_000012.11:g.111352021C>T , CM000674.1:g.111352021C>T | GRCh37 |
NC_000012.10:g.109836404C>T | NCBI36 |
NG_007554.1:g.11361G>A , LRG_393:g.11361G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000228841.15:c.243G>A MANE Select | ENSP00000228841.8:p.Val81= | |
ENST00000663220.1:c.186G>A | ENSP00000499568.1:p.Val62= | |
ENST00000228841.12:c.243G>A | ENSP00000228841.7:p.Val81= | |
ENST00000548438.1:c.201G>A | ENSP00000447154.1:p.Val67= | |
ENST00000549029.1:n.74G>A | ||
NM_000432.3:c.243G>A , LRG_393t1:c.243G>A | NP_000423.2:p.Val81= | |
NM_000432.4:c.243G>A MANE Select | NP_000423.2:p.Val81= |