HGVS | Genome Assembly |
---|---|
NC_000002.12:g.112782583A>G , CM000664.2:g.112782583A>G | GRCh38 |
NC_000002.11:g.113540160A>G , CM000664.1:g.113540160A>G | GRCh37 |
NC_000002.10:g.113256631A>G | NCBI36 |
NG_008850.1:g.7812T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263339.4:c.96+133T>C MANE Select | ENSP00000263339.3:n.96+133T>C | |
ENST00000263339.3:c.96+133T>C | ENSP00000263339.3:n.96+133T>C | |
NM_000575.3:c.96+133T>C | NP_000566.3:n.96+133T>C | |
NM_000575.4:c.96+133T>C | NP_000566.3:n.96+133T>C | |
NM_000575.5:c.96+133T>C MANE Select | NP_000566.3:n.96+133T>C | |
NM_001371554.1:c.96+133T>C | NP_001358483.1:n.96+133T>C |