HGVS | Genome Assembly |
---|---|
NC_000023.11:g.48527023C>A , CM000685.2:g.48527023C>A | GRCh38 |
NC_000023.10:g.48385411C>A , CM000685.1:g.48385411C>A | GRCh37 |
NC_000023.9:g.48270355C>A | NCBI36 |
NG_007452.1:g.10248C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000495186.6:c.336C>A MANE Select | ENSP00000417052.1:p.Ile112= | |
ENST00000651615.1:c.336C>A | ENSP00000498524.1:p.Ile112= | |
ENST00000276096.10:n.294C>A | ||
ENST00000414061.1:c.336C>A | ENSP00000405832.1:p.Ile112= | |
ENST00000446158.5:c.336C>A | ENSP00000390031.1:p.Ile112= | |
ENST00000466461.1:n.175C>A | ||
ENST00000495186.5:c.336C>A | ENSP00000417052.1:p.Ile112= | |
ENST00000498425.1:n.457C>A | ||
NM_006579.2:c.336C>A | NP_006570.1:p.Ile112= | |
NM_006579.3:c.336C>A MANE Select | NP_006570.1:p.Ile112= |