HGVS | Genome Assembly |
---|---|
NC_000004.12:g.119320669C>G , CM000666.2:g.119320669C>G | GRCh38 |
NC_000004.11:g.120241824C>G , CM000666.1:g.120241824C>G | GRCh37 |
NC_000004.10:g.120461272C>G | NCBI36 |
NG_011444.1:g.6493G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000274024.4:c.240+1G>C MANE Select | ENSP00000274024.3:n.240+1G>C | |
ENST00000274024.3:c.240+1G>C | ENSP00000274024.3:n.240+1G>C | |
NM_000134.3:c.240+1G>C | NP_000125.2:n.240+1G>C | |
NM_000134.4:c.240+1G>C MANE Select | NP_000125.2:n.240+1G>C |