gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64891267 (AFR)
Genomes Max Group AF
0.64891267 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21328242T>C , CM000663.2:g.21328242T>C | GRCh38 |
| NC_000001.10:g.21654735T>C , CM000663.1:g.21654735T>C | GRCh37 |
| NC_000001.9:g.21527322T>C | NCBI36 |
| NG_013008.1:g.22300A>G | |
| NG_013008.2:g.22300A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649812.1:c.3+17134A>G | ENSP00000497333.1:n.3+17134A>G | |
| ENST00000415912.6:c.3+17134A>G | ENSP00000405088.2:n.3+17134A>G | |
| ENST00000463334.2:n.201+16695A>G | ||
| NM_001113348.1:c.3+17134A>G | NP_001106819.1:n.3+17134A>G | |
| XM_011540872.1:c.75+964A>G | XP_011539174.1:n.75+964A>G | |
| XM_011540873.1:c.-1+16695A>G | XP_011539175.1:n.-1+16695A>G | |
| XM_011540872.2:c.75+964A>G | XP_011539174.1:n.75+964A>G | |
| XM_011540873.2:c.-1+16695A>G | XP_011539175.1:n.-1+16695A>G | |
| NM_001113348.2:c.3+17134A>G | NP_001106819.1:n.3+17134A>G |