HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122508777A>C , CM000672.2:g.122508777A>C | GRCh38 |
NC_000010.10:g.124268293A>C , CM000672.1:g.124268293A>C | GRCh37 |
NC_000010.9:g.124258283A>C | NCBI36 |
NG_011554.1:g.52253A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368984.8:c.1120+7A>C MANE Select | ENSP00000357980.3:n.1120+7A>C | |
ENST00000648167.1:c.802+7A>C | ENSP00000498033.1:n.802+7A>C | |
ENST00000368984.7:c.1120+7A>C | ENSP00000357980.3:n.1120+7A>C | |
ENST00000420892.1:c.343+7A>C | ENSP00000412676.1:n.343+7A>C | |
NM_002775.4:c.1120+7A>C | NP_002766.1:n.1120+7A>C | |
NM_002775.5:c.1120+7A>C MANE Select | NP_002766.1:n.1120+7A>C |