gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00031037 (AFR)
Genomes Max Group AF
0.00029988 (AFR)
Exomes Max Group AF
0.00022995 (AFR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48445373T>C , CM000677.2:g.48445373T>C | GRCh38 |
| NC_000015.9:g.48737570T>C , CM000677.1:g.48737570T>C | GRCh37 |
| NC_000015.8:g.46524862T>C | NCBI36 |
| NG_008805.2:g.205416A>G , LRG_778:g.205416A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5917+3A>G | ENSP00000453958.2:n.5917+3A>G | |
| ENST00000674301.2:c.5917+3A>G | ENSP00000501333.2:n.5917+3A>G | |
| ENST00000684448.1:n.4591+3A>G | ||
| ENST00000316623.10:c.5917+3A>G MANE Select | ENSP00000325527.5:n.5917+3A>G | |
| ENST00000674301.1:c.916+3A>G | ENSP00000501333.1:n.916+3A>G | |
| ENST00000316623.9:c.5917+3A>G | ENSP00000325527.5:n.5917+3A>G | |
| ENST00000537463.6:c.*1680+3A>G | ENSP00000440294.2:n.*1680+3A>G | |
| ENST00000559133.5:c.1224+3A>G | ||
| ENST00000560820.1:n.37+3A>G | ||
| NM_000138.4:c.5917+3A>G , LRG_778t1:c.5917+3A>G | NP_000129.3:n.5917+3A>G | |
| NM_000138.5:c.5917+3A>G MANE Select | NP_000129.3:n.5917+3A>G |