HGVS | Genome Assembly |
---|---|
NC_000017.11:g.43755673A>T , CM000679.2:g.43755673A>T | GRCh38 |
NC_000017.10:g.41833041A>T , CM000679.1:g.41833041A>T | GRCh37 |
NC_000017.9:g.39188567A>T | NCBI36 |
NG_008078.2:g.8116T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301691.3:c.311T>A MANE Select | ENSP00000301691.1:p.Val104Glu | |
ENST00000301691.2:c.311T>A | ENSP00000301691.1:p.Val104Glu | |
NM_025237.2:c.311T>A | NP_079513.1:p.Val104Glu | |
NM_025237.3:c.311T>A MANE Select | NP_079513.1:p.Val104Glu |