HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17044883G>T , CM000663.2:g.17044883G>T | GRCh38 |
NC_000001.10:g.17371378G>T , CM000663.1:g.17371378G>T | GRCh37 |
NC_000001.9:g.17243965G>T | NCBI36 |
NG_012340.1:g.14288C>A , LRG_316:g.14288C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.-94C>A | ENSP00000481376.2:n.-94C>A | |
ENST00000491274.6:c.36C>A | ENSP00000480482.2:p.Ser12= | |
ENST00000375499.8:c.78C>A MANE Select | ENSP00000364649.3:p.Ser26= | |
ENST00000375499.7:c.78C>A | ENSP00000364649.3:p.Ser26= | |
ENST00000463045.2:c.-94C>A | ENSP00000481376.1:n.-94C>A | |
ENST00000466613.2:n.90C>A | ||
ENST00000485515.5:n.66C>A | ||
ENST00000491274.5:c.36C>A | ENSP00000480482.1:p.Ser12= | |
NM_003000.2:c.78C>A , LRG_316t1:c.78C>A | NP_002991.2:p.Ser26= | |
NM_003000.3:c.78C>A MANE Select | NP_002991.2:p.Ser26= |