gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69348488 (EAS)
Genomes Max Group AF
0.69348488 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78615314T>C , CM000677.2:g.78615314T>C | GRCh38 |
| NC_000015.9:g.78907656T>C , CM000677.1:g.78907656T>C | GRCh37 |
| NC_000015.8:g.76694711T>C | NCBI36 |
| NG_016143.1:g.10982A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326828.6:c.377+1710A>G MANE Select | ENSP00000315602.5:n.377+1710A>G | |
| ENST00000326828.5:c.377+1710A>G | ENSP00000315602.5:n.377+1710A>G | |
| ENST00000348639.7:c.377+1710A>G | ENSP00000267951.4:n.377+1710A>G | |
| ENST00000559658.5:c.377+1710A>G | ENSP00000452896.1:n.377+1710A>G | |
| NM_000743.4:c.377+1710A>G | NP_000734.2:n.377+1710A>G | |
| NM_001166694.1:c.377+1710A>G | NP_001160166.1:n.377+1710A>G | |
| NR_046313.1:n.878+1710A>G | ||
| XM_006720382.1:c.176+1710A>G | XP_006720445.1:n.176+1710A>G | |
| XM_011521173.1:c.296+1710A>G | XP_011519475.1:n.296+1710A>G | |
| XM_006720382.3:c.176+1710A>G | XP_006720445.1:n.176+1710A>G | |
| NM_000743.5:c.377+1710A>G MANE Select | NP_000734.2:n.377+1710A>G | |
| NM_001166694.2:c.377+1710A>G | NP_001160166.1:n.377+1710A>G | |
| NR_046313.2:n.579+1710A>G |