gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000543 (NFE)
Exomes Max Group AF
0.00000576 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115702996C>A , CM000663.2:g.115702996C>A | GRCh38 |
| NC_000001.10:g.116245617C>A , CM000663.1:g.116245617C>A | GRCh37 |
| NC_000001.9:g.116047140C>A | NCBI36 |
| NG_008802.1:g.70810G>T , LRG_404:g.70810G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.*312-1G>T | ENSP00000518226.1:n.*312-1G>T | |
| ENST00000261448.6:c.940-1G>T MANE Select | ENSP00000261448.5:n.940-1G>T | |
| ENST00000261448.5:c.940-1G>T | ENSP00000261448.5:n.940-1G>T | |
| NM_001232.3:c.940-1G>T , LRG_404t1:c.940-1G>T | NP_001223.2:n.940-1G>T | |
| NM_001232.4:c.940-1G>T MANE Select | NP_001223.2:n.940-1G>T |