HGVS | Genome Assembly |
---|---|
NC_000001.11:g.240558266G>T , CM000663.2:g.240558266G>T | GRCh38 |
NC_000001.10:g.240721566G>T , CM000663.1:g.240721566G>T | GRCh37 |
NC_000001.9:g.238788189G>T | NCBI36 |
NG_053136.1:g.59107C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000318160.5:c.-2+53618C>A MANE Select | ENSP00000318650.4:n.-2+53618C>A | |
ENST00000318160.4:c.-2+53618C>A | ENSP00000318650.4:n.-2+53618C>A | |
NM_022469.3:c.-2+53618C>A | NP_071914.3:n.-2+53618C>A | |
XM_011544249.1:c.-122+53618C>A | XP_011542551.1:n.-122+53618C>A | |
XR_949319.1:n.219+2054G>T | ||
XM_011544249.2:c.-122+53618C>A | XP_011542551.1:n.-122+53618C>A | |
NM_022469.4:c.-2+53618C>A MANE Select | NP_071914.3:n.-2+53618C>A |