HGVS | Genome Assembly |
---|---|
NC_000017.11:g.40867056C>T , CM000679.2:g.40867056C>T | GRCh38 |
NC_000017.10:g.39023308C>T , CM000679.1:g.39023308C>T | GRCh37 |
NC_000017.9:g.36276834C>T | NCBI36 |
NG_008077.1:g.5155G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251643.5:c.131G>A MANE Select | ENSP00000251643.4:p.Gly44Glu | |
ENST00000647902.1:c.131G>A | ENSP00000497770.1:p.Gly44Glu | |
ENST00000251643.4:c.131G>A | ENSP00000251643.4:p.Gly44Glu | |
NM_000223.3:c.131G>A | NP_000214.1:p.Gly44Glu | |
XR_934754.1:n.1500+16196C>T | ||
XR_934754.2:n.2008+16196C>T | ||
NM_000223.4:c.131G>A MANE Select | NP_000214.1:p.Gly44Glu |