gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64588347 (AFR)
Genomes Max Group AF
0.64588347 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33082502A>G , CM000668.2:g.33082502A>G | GRCh38 |
| NC_000006.11:g.33050279A>G , CM000668.1:g.33050279A>G | GRCh37 |
| NC_000006.10:g.33158257A>G | NCBI36 |
| NG_033241.1:g.3277T>C | |
| NG_033242.1:g.11577A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418931.7:c.364+1567A>G MANE Select | ENSP00000408146.2:n.364+1567A>G | |
| ENST00000416804.1:c.264+1567A>G | ||
| ENST00000418931.6:c.364+1567A>G | ENSP00000408146.2:n.364+1567A>G | |
| ENST00000428835.5:c.295+1567A>G | ENSP00000412654.1:n.295+1567A>G | |
| ENST00000471184.5:n.414-1012A>G | ||
| ENST00000478189.1:n.423+364A>G | ||
| ENST00000488575.1:n.413+1567A>G | ||
| ENST00000498038.1:n.493+1567A>G | ||
| NM_002121.5:c.364+1567A>G | NP_002112.3:n.364+1567A>G | |
| XM_006715078.2:c.52+1567A>G | XP_006715141.1:n.52+1567A>G | |
| NM_002121.6:c.364+1567A>G MANE Select | NP_002112.3:n.364+1567A>G |