HGVS | Genome Assembly |
---|---|
NC_000012.12:g.110914290C>A , CM000674.2:g.110914290C>A | GRCh38 |
NC_000012.11:g.111352094C>A , CM000674.1:g.111352094C>A | GRCh37 |
NC_000012.10:g.109836477C>A | NCBI36 |
NG_007554.1:g.11288G>T , LRG_393:g.11288G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000228841.15:c.170G>T MANE Select | ENSP00000228841.8:p.Gly57Val | |
ENST00000663220.1:c.113G>T | ENSP00000499568.1:p.Gly38Val | |
ENST00000228841.12:c.170G>T | ENSP00000228841.7:p.Gly57Val | |
ENST00000548438.1:c.128G>T | ENSP00000447154.1:p.Gly43Val | |
ENST00000549029.1:n.1G>T | ||
NM_000432.3:c.170G>T , LRG_393t1:c.170G>T | NP_000423.2:p.Gly57Val | |
NM_000432.4:c.170G>T MANE Select | NP_000423.2:p.Gly57Val |