HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17044886G>A , CM000663.2:g.17044886G>A | GRCh38 |
NC_000001.10:g.17371381G>A , CM000663.1:g.17371381G>A | GRCh37 |
NC_000001.9:g.17243968G>A | NCBI36 |
NG_012340.1:g.14285C>T , LRG_316:g.14285C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.-97C>T | ENSP00000481376.2:n.-97C>T | |
ENST00000491274.6:c.33C>T | ENSP00000480482.2:p.Ala11= | |
ENST00000375499.8:c.75C>T MANE Select | ENSP00000364649.3:p.Ala25= | |
ENST00000375499.7:c.75C>T | ENSP00000364649.3:p.Ala25= | |
ENST00000463045.2:c.-97C>T | ENSP00000481376.1:n.-97C>T | |
ENST00000466613.2:n.87C>T | ||
ENST00000485515.5:n.63C>T | ||
ENST00000491274.5:c.33C>T | ENSP00000480482.1:p.Ala11= | |
NM_003000.2:c.75C>T , LRG_316t1:c.75C>T | NP_002991.2:p.Ala25= | |
NM_003000.3:c.75C>T MANE Select | NP_002991.2:p.Ala25= |