gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83924375 (AFR)
Genomes Max Group AF
0.83924375 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31168937T>C , CM000668.2:g.31168937T>C | GRCh38 |
| NC_000006.11:g.31136714T>C , CM000668.1:g.31136714T>C | GRCh37 |
| NC_000006.10:g.31244693T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259915.13:c.405+1279A>G MANE Select | ENSP00000259915.7:n.405+1279A>G | |
| ENST00000259915.12:c.405+1279A>G | ENSP00000259915.7:n.405+1279A>G | |
| ENST00000441888.7:c.-183-2890A>G | ENSP00000389359.2:n.-183-2890A>G | |
| ENST00000461401.1:n.443+1279A>G | ||
| ENST00000619340.1:c.405+1279A>G | ENSP00000481679.1:n.405+1279A>G | |
| NM_002701.5:c.405+1279A>G | NP_002692.2:n.405+1279A>G | |
| NM_002701.6:c.405+1279A>G MANE Select | NP_002692.2:n.405+1279A>G |