HGVS | Genome Assembly |
---|---|
NC_000017.11:g.40866960G>T , CM000679.2:g.40866960G>T | GRCh38 |
NC_000017.10:g.39023212G>T , CM000679.1:g.39023212G>T | GRCh37 |
NC_000017.9:g.36276738G>T | NCBI36 |
NG_008077.1:g.5251C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251643.5:c.227C>A MANE Select | ENSP00000251643.4:p.Ser76Tyr | |
ENST00000647902.1:c.211+16C>A | ENSP00000497770.1:n.211+16C>A | |
ENST00000251643.4:c.227C>A | ENSP00000251643.4:p.Ser76Tyr | |
NM_000223.3:c.227C>A | NP_000214.1:p.Ser76Tyr | |
XR_934754.1:n.1500+16100G>T | ||
XR_934754.2:n.2008+16100G>T | ||
NM_000223.4:c.227C>A MANE Select | NP_000214.1:p.Ser76Tyr |