HGVS | Genome Assembly |
---|---|
NC_000020.11:g.31820258G>T , CM000682.2:g.31820258G>T | GRCh38 |
NC_000020.10:g.30408061G>T , CM000682.1:g.30408061G>T | GRCh37 |
NC_000020.9:g.29871722G>T | NCBI36 |
NG_012847.1:g.5884G>T , LRG_392:g.5884G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375985.5:c.185G>T MANE Select | ENSP00000365152.4:p.Gly62Val | |
ENST00000375985.4:c.185G>T | ENSP00000365152.4:p.Gly62Val | |
ENST00000375994.6:c.185G>T | ENSP00000365162.2:p.Gly62Val | |
NM_033118.3:c.185G>T , LRG_392t1:c.185G>T | NP_149109.1:p.Gly62Val | |
XR_244155.1:n.350G>T | ||
NM_033118.4:c.185G>T MANE Select | NP_149109.1:p.Gly62Val |