HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110601581C>A , CM000672.2:g.110601581C>A | GRCh38 |
NC_000010.10:g.112361339C>A , CM000672.1:g.112361339C>A | GRCh37 |
NC_000010.9:g.112351329C>A | NCBI36 |
NG_012217.1:g.38891C>A , LRG_774:g.38891C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.4878-56C>A | ||
ENST00000685743.1:n.2297C>A | ||
ENST00000686057.1:n.996-56C>A | ||
ENST00000689321.1:n.1608-56C>A | ||
ENST00000689986.1:n.434-56C>A | ||
ENST00000361804.5:c.2645-56C>A MANE Select | ENSP00000354720.5:n.2645-56C>A | |
ENST00000361804.4:c.2645-56C>A | ENSP00000354720.4:n.2645-56C>A | |
NM_005445.3:c.2645-56C>A , LRG_774t1:c.2645-56C>A | NP_005436.1:n.2645-56C>A | |
NM_005445.4:c.2645-56C>A MANE Select | NP_005436.1:n.2645-56C>A |