HGVS | Genome Assembly |
---|---|
NC_000002.12:g.216122110T>A , CM000664.2:g.216122110T>A | GRCh38 |
NC_000002.11:g.216986833T>A , CM000664.1:g.216986833T>A | GRCh37 |
NC_000002.10:g.216695078T>A | NCBI36 |
NG_029780.1:g.17814T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000392132.7:c.540T>A MANE Select | ENSP00000375977.2:p.Asp180Glu | |
ENST00000392132.6:c.540T>A | ENSP00000375977.2:p.Asp180Glu | |
ENST00000392133.7:c.540T>A | ENSP00000375978.3:p.Asp180Glu | |
ENST00000460284.5:n.1082T>A | ||
NM_021141.3:c.540T>A | NP_066964.1:p.Asp180Glu | |
NM_021141.4:c.540T>A MANE Select | NP_066964.1:p.Asp180Glu |