HGVS | Genome Assembly |
---|---|
NC_000012.12:g.110914186C>A , CM000674.2:g.110914186C>A | GRCh38 |
NC_000012.11:g.111351990C>A , CM000674.1:g.111351990C>A | GRCh37 |
NC_000012.10:g.109836373C>A | NCBI36 |
NG_007554.1:g.11392G>T , LRG_393:g.11392G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000228841.15:c.274G>T MANE Select | ENSP00000228841.8:p.Gly92Ter | |
ENST00000663220.1:c.217G>T | ENSP00000499568.1:p.Gly73Ter | |
ENST00000228841.12:c.274G>T | ENSP00000228841.7:p.Gly92Ter | |
ENST00000548438.1:c.232G>T | ENSP00000447154.1:p.Gly78Ter | |
ENST00000549029.1:n.105G>T | ||
NM_000432.3:c.274G>T , LRG_393t1:c.274G>T | NP_000423.2:p.Gly92Ter | |
NM_000432.4:c.274G>T MANE Select | NP_000423.2:p.Gly92Ter |