gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97611051 (EAS)
Genomes Max Group AF
0.97611051 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124668099T>C , CM000673.2:g.124668099T>C | GRCh38 |
| NC_000011.9:g.124537995T>C , CM000673.1:g.124537995T>C | GRCh37 |
| NC_000011.8:g.124043205T>C | NCBI36 |
| NG_028132.1:g.13205A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263593.8:c.229+1261A>G MANE Select | ENSP00000263593.3:n.229+1261A>G | |
| ENST00000263593.7:c.229+1261A>G | ENSP00000263593.3:n.229+1261A>G | |
| ENST00000436137.2:n.342+1261A>G | ||
| ENST00000533613.1:n.253+1261A>G | ||
| ENST00000545756.5:c.124+1261A>G | ENSP00000437877.1:n.124+1261A>G | |
| ENST00000618733.4:c.124+1261A>G | ENSP00000478211.1:n.124+1261A>G | |
| NM_001199922.1:c.124+1261A>G | NP_001186851.1:n.124+1261A>G | |
| NM_170601.4:c.229+1261A>G | NP_733746.1:n.229+1261A>G | |
| XM_005271592.3:c.229+1261A>G | XP_005271649.1:n.229+1261A>G | |
| XM_017017930.1:c.-3024+1261A>G | XP_016873419.1:n.-3024+1261A>G | |
| NM_170601.5:c.229+1261A>G MANE Select | NP_733746.1:n.229+1261A>G | |
| NM_001199922.2:c.124+1261A>G | NP_001186851.1:n.124+1261A>G |