gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69407561 (SAS)
Genomes Max Group AF
0.69407561 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31071754A>C , CM000678.2:g.31071754A>C | GRCh38 |
| NC_000016.9:g.31083075A>C , CM000678.1:g.31083075A>C | GRCh37 |
| NC_000016.8:g.30990576A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300849.5:c.-23+1905T>G MANE Select | ENSP00000300849.4:n.-23+1905T>G | |
| ENST00000300849.4:c.-23+1905T>G | ENSP00000300849.4:n.-23+1905T>G | |
| ENST00000394983.6:c.-23+1132T>G | ENSP00000378434.2:n.-23+1132T>G | |
| ENST00000414399.1:c.-23+1905T>G | ENSP00000412340.1:n.-23+1905T>G | |
| ENST00000417935.1:c.-23+986T>G | ENSP00000390671.1:n.-23+986T>G | |
| ENST00000538906.5:c.-23+986T>G | ENSP00000440149.1:n.-23+986T>G | |
| ENST00000564456.1:n.526+1905T>G | ||
| NM_001172668.1:c.-23+986T>G | NP_001166139.1:n.-23+986T>G | |
| NM_024706.4:c.-23+1905T>G | NP_078982.3:n.-23+1905T>G | |
| XM_011545949.1:c.-68+1905T>G | XP_011544251.1:n.-68+1905T>G | |
| NM_024706.5:c.-23+1905T>G MANE Select | NP_078982.3:n.-23+1905T>G | |
| NM_001172668.2:c.-23+986T>G | NP_001166139.1:n.-23+986T>G |