HGVS | Genome Assembly |
---|---|
NC_000004.12:g.119320537A>G , CM000666.2:g.119320537A>G | GRCh38 |
NC_000004.11:g.120241692A>G , CM000666.1:g.120241692A>G | GRCh37 |
NC_000004.10:g.120461140A>G | NCBI36 |
NG_011444.1:g.6625T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274024.4:c.240+133T>C MANE Select | ENSP00000274024.3:n.240+133T>C | |
ENST00000274024.3:c.240+133T>C | ENSP00000274024.3:n.240+133T>C | |
NM_000134.3:c.240+133T>C | NP_000125.2:n.240+133T>C | |
NM_000134.4:c.240+133T>C MANE Select | NP_000125.2:n.240+133T>C |