Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601592G>A , CM000672.2:g.110601592G>A | GRCh38 |
| NC_000010.10:g.112361350G>A , CM000672.1:g.112361350G>A | GRCh37 |
| NC_000010.9:g.112351340G>A | NCBI36 |
| NG_012217.1:g.38902G>A , LRG_774:g.38902G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.4878-45G>A | ||
| ENST00000685743.1:n.2308G>A | ||
| ENST00000686057.1:n.996-45G>A | ||
| ENST00000689321.1:n.1608-45G>A | ||
| ENST00000689986.1:n.434-45G>A | ||
| ENST00000361804.5:c.2645-45G>A MANE Select | ENSP00000354720.5:n.2645-45G>A | |
| ENST00000361804.4:c.2645-45G>A | ENSP00000354720.4:n.2645-45G>A | |
| NM_005445.3:c.2645-45G>A , LRG_774t1:c.2645-45G>A | NP_005436.1:n.2645-45G>A | |
| NM_005445.4:c.2645-45G>A MANE Select | NP_005436.1:n.2645-45G>A |