HGVS | Genome Assembly |
---|---|
NC_000014.9:g.50909955T>A , CM000676.2:g.50909955T>A | GRCh38 |
NC_000014.8:g.51376673T>A , CM000676.1:g.51376673T>A | GRCh37 |
NC_000014.7:g.50446423T>A | NCBI36 |
NG_012796.1:g.39576A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000216392.8:c.2117A>T MANE Select | ENSP00000216392.7:p.Glu706Val | |
ENST00000216392.7:c.2117A>T | ENSP00000216392.7:p.Glu706Val | |
ENST00000532107.2:n.290A>T | ||
ENST00000532462.5:c.2117A>T | ENSP00000431657.1:p.Glu706Val | |
ENST00000544180.6:c.2015A>T | ENSP00000443787.1:p.Glu672Val | |
NM_001163940.1:c.2015A>T | NP_001157412.1:p.Glu672Val | |
NM_002863.4:c.2117A>T | NP_002854.3:p.Glu706Val | |
NM_002863.5:c.2117A>T MANE Select | NP_002854.3:p.Glu706Val | |
NM_001163940.2:c.2015A>T | NP_001157412.1:p.Glu672Val |