HGVS | Genome Assembly |
---|---|
NC_000001.11:g.240558252C= , CM000663.2:g.240558252C= | GRCh38 |
NC_000001.10:g.240721552C= , CM000663.1:g.240721552C= | GRCh37 |
NC_000001.9:g.238788175C= | NCBI36 |
NG_053136.1:g.59121G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000318160.5:c.-2+53632G= MANE Select | ENSP00000318650.4:n.-2+53632G= | |
ENST00000318160.4:c.-2+53632G= | ENSP00000318650.4:n.-2+53632G= | |
NM_022469.3:c.-2+53632G= | NP_071914.3:n.-2+53632G= | |
XM_011544249.1:c.-122+53632G= | XP_011542551.1:n.-122+53632G= | |
XR_949319.1:n.219+2040C= | ||
XM_011544249.2:c.-122+53632G= | XP_011542551.1:n.-122+53632G= | |
NM_022469.4:c.-2+53632G= MANE Select | NP_071914.3:n.-2+53632G= |