gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001329 (AMR)
Exomes Max Group AF
0.00001783 (AMR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48446702G>T , CM000677.2:g.48446702G>T | GRCh38 |
| NC_000015.9:g.48738899G>T , CM000677.1:g.48738899G>T | GRCh37 |
| NC_000015.8:g.46526191G>T | NCBI36 |
| NG_008805.2:g.204087C>A , LRG_778:g.204087C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5788+4C>A | ENSP00000453958.2:n.5788+4C>A | |
| ENST00000674301.2:c.5788+4C>A | ENSP00000501333.2:n.5788+4C>A | |
| ENST00000684448.1:n.4462+4C>A | ||
| ENST00000316623.10:c.5788+4C>A MANE Select | ENSP00000325527.5:n.5788+4C>A | |
| ENST00000674301.1:c.787+4C>A | ENSP00000501333.1:n.787+4C>A | |
| ENST00000316623.9:c.5788+4C>A | ENSP00000325527.5:n.5788+4C>A | |
| ENST00000537463.6:c.*1551+4C>A | ENSP00000440294.2:n.*1551+4C>A | |
| ENST00000559133.5:c.1095+4C>A | ||
| NM_000138.4:c.5788+4C>A , LRG_778t1:c.5788+4C>A | NP_000129.3:n.5788+4C>A | |
| NM_000138.5:c.5788+4C>A MANE Select | NP_000129.3:n.5788+4C>A |