dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.0000031 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52515795T>C , CM000674.2:g.52515795T>C | GRCh38 |
| NC_000012.11:g.52909579T>C , CM000674.1:g.52909579T>C | GRCh37 |
| NC_000012.10:g.51195846T>C | NCBI36 |
| NG_008297.1:g.9665A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1474+3A>G MANE Select | ENSP00000252242.4:n.1474+3A>G | |
| ENST00000252242.8:c.1474+3A>G | ENSP00000252242.4:n.1474+3A>G | |
| ENST00000548409.5:c.599A>G | ||
| ENST00000549511.5:n.681+3A>G | ||
| ENST00000552952.1:n.399+3A>G | ||
| NM_000424.3:c.1474+3A>G | NP_000415.2:n.1474+3A>G | |
| NM_000424.4:c.1474+3A>G MANE Select | NP_000415.2:n.1474+3A>G |