HGVS | Genome Assembly |
---|---|
NC_000002.12:g.21011418T>A , CM000664.2:g.21011418T>A | GRCh38 |
NC_000002.11:g.21234290T>A , CM000664.1:g.21234290T>A | GRCh37 |
NC_000002.10:g.21087795T>A | NCBI36 |
NG_011793.1:g.37656A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673739.2:c.*4756A>T | ENSP00000501110.2:n.*4756A>T | |
ENST00000673739.1:c.5164A>T | ENSP00000501110.1:n.5164A>T | |
ENST00000233242.5:c.5450A>T MANE Select | ENSP00000233242.1:p.Glu1817Val | |
ENST00000616098.4:c.5450A>T | ENSP00000477990.1:p.Glu1817Val | |
NM_000384.2:c.5450A>T | NP_000375.2:p.Glu1817Val | |
XM_011532809.1:c.5450A>T | XP_011531111.1:p.Glu1817Val | |
NM_000384.3:c.5450A>T MANE Select | NP_000375.3:p.Glu1817Val |