HGVS | Genome Assembly |
---|---|
NC_000016.10:g.82081670T>A , CM000678.2:g.82081670T>A | GRCh38 |
NC_000016.9:g.82115275T>A , CM000678.1:g.82115275T>A | GRCh37 |
NC_000016.8:g.80672776T>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000199936.9:c.665-9232T>A MANE Select | ENSP00000199936.4:n.665-9232T>A | |
ENST00000199936.8:c.665-9232T>A | ENSP00000199936.4:n.665-9232T>A | |
ENST00000566838.2:c.293-9232T>A | ENSP00000456471.1:n.293-9232T>A | |
ENST00000568090.5:c.257-9232T>A | ENSP00000456529.1:n.257-9232T>A | |
NM_002153.2:c.665-9232T>A | NP_002144.1:n.665-9232T>A | |
XR_243405.2:n.853-8495T>A | ||
XR_001751898.2:n.814-8495T>A | ||
NM_002153.3:c.665-9232T>A MANE Select | NP_002144.1:n.665-9232T>A |