ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003259 (AMR)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00004409 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55156338G>C , CM000681.2:g.55156338G>C | GRCh38 |
| NC_000019.9:g.55667706G>C , CM000681.1:g.55667706G>C | GRCh37 |
| NC_000019.8:g.60359518G>C | NCBI36 |
| NG_007866.2:g.6395C>G , LRG_432:g.6395C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.151-6C>G MANE Select | ENSP00000341838.5:n.151-6C>G | |
| ENST00000665070.1:c.151-6C>G | ENSP00000499482.1:n.151-6C>G | |
| ENST00000344887.9:c.151-6C>G | ENSP00000341838.5:n.151-6C>G | |
| ENST00000585806.5:n.144C>G | ||
| ENST00000586669.5:n.159-6C>G | ||
| ENST00000586858.1:c.108C>G | ENSP00000465258.1:p.Leu36= | |
| ENST00000587176.5:n.335-6C>G | ||
| ENST00000587871.1:c.770-6C>G | ||
| ENST00000588882.1:c.76-6C>G | ENSP00000466729.1:n.76-6C>G | |
| ENST00000590463.1:n.323-6C>G | ||
| NM_000363.4:c.151-6C>G , LRG_432t1:c.151-6C>G | NP_000354.4:n.151-6C>G | |
| NM_000363.5:c.151-6C>G MANE Select | NP_000354.4:n.151-6C>G |