HGVS | Genome Assembly |
---|---|
NC_000001.11:g.240558278G>C , CM000663.2:g.240558278G>C | GRCh38 |
NC_000001.10:g.240721578G>C , CM000663.1:g.240721578G>C | GRCh37 |
NC_000001.9:g.238788201G>C | NCBI36 |
NG_053136.1:g.59095C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000318160.5:c.-2+53606C>G MANE Select | ENSP00000318650.4:n.-2+53606C>G | |
ENST00000318160.4:c.-2+53606C>G | ENSP00000318650.4:n.-2+53606C>G | |
NM_022469.3:c.-2+53606C>G | NP_071914.3:n.-2+53606C>G | |
XM_011544249.1:c.-122+53606C>G | XP_011542551.1:n.-122+53606C>G | |
XR_949319.1:n.219+2066G>C | ||
XM_011544249.2:c.-122+53606C>G | XP_011542551.1:n.-122+53606C>G | |
NM_022469.4:c.-2+53606C>G MANE Select | NP_071914.3:n.-2+53606C>G |