HGVS | Genome Assembly |
---|---|
NC_000009.12:g.6595111C>A , CM000671.2:g.6595111C>A | GRCh38 |
NC_000009.11:g.6595111C>A , CM000671.1:g.6595111C>A | GRCh37 |
NC_000009.10:g.6585111C>A | NCBI36 |
NG_016397.1:g.55582G>T , LRG_643:g.55582G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000321612.8:c.1164G>T MANE Select | ENSP00000370737.4:p.Leu388Phe | |
ENST00000638654.1:c.411G>T | ENSP00000491101.1:p.Leu137Phe | |
ENST00000639364.1:n.864G>T | ||
ENST00000639443.1:n.732G>T | ||
ENST00000639493.1:n.316G>T | ||
ENST00000639954.1:n.872G>T | ||
ENST00000640592.1:n.1047G>T | ||
ENST00000321612.6:c.1164G>T | ENSP00000370737.3:p.Leu388Phe | |
ENST00000463305.1:n.248G>T | ||
NM_000170.2:c.1164G>T , LRG_643t1:c.1164G>T | NP_000161.2:p.Leu388Phe | |
NM_000170.3:c.1164G>T MANE Select | NP_000161.2:p.Leu388Phe |