HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14871443A>T , CM000667.2:g.14871443A>T | GRCh38 |
NC_000005.9:g.14871552A>T , CM000667.1:g.14871552A>T | GRCh37 |
NC_000005.8:g.14924552A>T | NCBI36 |
NG_008273.1:g.5336T>A | |
NG_008273.2:g.5343T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000284268.8:c.5T>A MANE Select | ENSP00000284268.6:p.Val2Glu | |
ENST00000284268.6:c.5T>A | ENSP00000284268.6:p.Val2Glu | |
ENST00000505140.1:c.5T>A | ENSP00000426332.1:p.Val2Glu | |
ENST00000513115.1:n.30T>A | ||
NM_054027.4:c.5T>A | NP_473368.1:p.Val2Glu | |
XM_011514067.1:c.5T>A | XP_011512369.1:p.Val2Glu | |
NM_054027.5:c.5T>A | NP_473368.1:p.Val2Glu | |
NM_054027.6:c.5T>A MANE Select | NP_473368.1:p.Val2Glu |