HGVS | Genome Assembly |
---|---|
NC_000023.11:g.48527297G= , CM000685.2:g.48527297G= | GRCh38 |
NC_000023.10:g.48385685G= , CM000685.1:g.48385685G= | GRCh37 |
NC_000023.9:g.48270629G= | NCBI36 |
NG_007452.1:g.10522G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000495186.6:c.469+12G= MANE Select | ENSP00000417052.1:n.469+12G= | |
ENST00000651615.1:c.469+12G= | ENSP00000498524.1:n.469+12G= | |
ENST00000276096.10:n.427+12G= | ||
ENST00000446158.5:c.469+12G= | ENSP00000390031.1:n.469+12G= | |
ENST00000466461.1:n.320G= | ||
ENST00000495186.5:c.469+12G= | ENSP00000417052.1:n.469+12G= | |
ENST00000498425.1:n.590+12G= | ||
NM_006579.2:c.469+12G= | NP_006570.1:n.469+12G= | |
NM_006579.3:c.469+12G= MANE Select | NP_006570.1:n.469+12G= |