HGVS | Genome Assembly |
---|---|
NC_000023.11:g.48527410T>A , CM000685.2:g.48527410T>A | GRCh38 |
NC_000023.10:g.48385798T>A , CM000685.1:g.48385798T>A | GRCh37 |
NC_000023.9:g.48270742T>A | NCBI36 |
NG_007452.1:g.10635T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000495186.6:c.469+125T>A MANE Select | ENSP00000417052.1:n.469+125T>A | |
ENST00000651615.1:c.469+125T>A | ENSP00000498524.1:n.469+125T>A | |
ENST00000276096.10:n.427+125T>A | ||
ENST00000446158.5:c.469+125T>A | ENSP00000390031.1:n.469+125T>A | |
ENST00000466461.1:n.433T>A | ||
ENST00000495186.5:c.469+125T>A | ENSP00000417052.1:n.469+125T>A | |
ENST00000498425.1:n.590+125T>A | ||
NM_006579.2:c.469+125T>A | NP_006570.1:n.469+125T>A | |
NM_006579.3:c.469+125T>A MANE Select | NP_006570.1:n.469+125T>A |