HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12778374C>A , CM000686.2:g.12778374C>A | GRCh38 |
NC_000024.9:g.14890308C>A , CM000686.1:g.14890308C>A | GRCh37 |
NC_000024.8:g.13399702C>A | NCBI36 |
NG_008311.1:g.82149C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651177.1:c.2880+115C>A | ENSP00000498372.1:n.2880+115C>A | |
ENST00000338981.7:c.2880+115C>A MANE Select | ENSP00000342812.3:n.2880+115C>A | |
ENST00000426564.6:n.2892+115C>A | ||
NM_004654.3:c.2880+115C>A | NP_004645.2:n.2880+115C>A | |
XM_011531469.1:c.2880+115C>A | XP_011529771.1:n.2880+115C>A | |
XM_011531470.1:c.2646+115C>A | XP_011529772.1:n.2646+115C>A | |
XM_017030078.2:c.2895+115C>A | XP_016885567.1:n.2895+115C>A | |
NM_004654.4:c.2880+115C>A MANE Select | NP_004645.2:n.2880+115C>A |