HGVS | Genome Assembly |
---|---|
NC_000001.11:g.115033743C>A , CM000663.2:g.115033743C>A | GRCh38 |
NC_000001.10:g.115576364C>A , CM000663.1:g.115576364C>A | GRCh37 |
NC_000001.9:g.115377887C>A | NCBI36 |
NG_015891.1:g.8950C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000256592.3:c.162+219C>A MANE Select | ENSP00000256592.1:n.162+219C>A | |
ENST00000256592.2:c.162+219C>A | ENSP00000256592.1:n.162+219C>A | |
ENST00000369517.1:c.162+219C>A | ENSP00000358530.1:n.162+219C>A | |
NM_000549.4:c.162+219C>A | NP_000540.2:n.162+219C>A | |
XM_011542065.1:c.162+219C>A | XP_011540367.1:n.162+219C>A | |
XM_011542065.2:c.162+219C>A | XP_011540367.1:n.162+219C>A | |
NM_000549.5:c.162+219C>A MANE Select | NP_000540.2:n.162+219C>A |