HGVS | Genome Assembly |
---|---|
NC_000014.9:g.77517985C>T , CM000676.2:g.77517985C>T | GRCh38 |
NC_000014.8:g.77984328C>T , CM000676.1:g.77984328C>T | GRCh37 |
NC_000014.7:g.77054081C>T | NCBI36 |
NG_028282.1:g.103783G>A , LRG_371:g.103783G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686627.1:n.601+53G>A | ||
ENST00000687688.1:n.1332+53G>A | ||
ENST00000692906.1:n.1301+53G>A | ||
ENST00000216484.7:c.1569+53G>A MANE Select | ENSP00000216484.2:n.1569+53G>A | |
ENST00000216484.6:c.1569+53G>A | ENSP00000216484.2:n.1569+53G>A | |
ENST00000556607.1:c.397+53G>A | ENSP00000451029.1:n.397+53G>A | |
NM_004863.3:c.1569+53G>A , LRG_371t1:c.1569+53G>A | NP_004854.1:n.1569+53G>A | |
NM_004863.4:c.1569+53G>A MANE Select | NP_004854.1:n.1569+53G>A |