HGVS | Genome Assembly |
---|---|
NC_000001.11:g.152805991C>G , CM000663.2:g.152805991C>G | GRCh38 |
NC_000001.10:g.152778467C>G , CM000663.1:g.152778467C>G | GRCh37 |
NC_000001.9:g.151045091C>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000607093.2:c.-20-493G>C MANE Select | ENSP00000475270.1:n.-20-493G>C | |
ENST00000606576.1:c.-20-493G>C | ENSP00000476034.1:n.-20-493G>C | |
NM_001276331.1:c.-20-493G>C | NP_001263260.1:n.-20-493G>C | |
NM_178351.3:c.-20-493G>C | NP_848128.1:n.-20-493G>C | |
NM_001276331.2:c.-20-493G>C | NP_001263260.1:n.-20-493G>C | |
NM_178351.4:c.-20-493G>C MANE Select | NP_848128.1:n.-20-493G>C |