HGVS | Genome Assembly |
---|---|
NC_000009.12:g.6595112A>T , CM000671.2:g.6595112A>T | GRCh38 |
NC_000009.11:g.6595112A>T , CM000671.1:g.6595112A>T | GRCh37 |
NC_000009.10:g.6585112A>T | NCBI36 |
NG_016397.1:g.55581T>A , LRG_643:g.55581T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000321612.8:c.1163T>A MANE Select | ENSP00000370737.4:p.Leu388Ter | |
ENST00000638654.1:c.410T>A | ENSP00000491101.1:p.Leu137Ter | |
ENST00000639364.1:n.863T>A | ||
ENST00000639443.1:n.731T>A | ||
ENST00000639493.1:n.315T>A | ||
ENST00000639954.1:n.871T>A | ||
ENST00000640592.1:n.1046T>A | ||
ENST00000321612.6:c.1163T>A | ENSP00000370737.3:p.Leu388Ter | |
ENST00000463305.1:n.247T>A | ||
NM_000170.2:c.1163T>A , LRG_643t1:c.1163T>A | NP_000161.2:p.Leu388Ter | |
NM_000170.3:c.1163T>A MANE Select | NP_000161.2:p.Leu388Ter |