gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21200162 (AFR)
Genomes Max Group AF
0.21200162 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39032660T>C , CM000665.2:g.39032660T>C | GRCh38 |
| NC_000003.11:g.39074151T>C , CM000665.1:g.39074151T>C | GRCh37 |
| NC_000003.10:g.39049155T>C | NCBI36 |
| NG_033859.2:g.24327A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302328.9:c.-403-157A>G MANE Select | ENSP00000307599.3:n.-403-157A>G | |
| ENST00000665106.1:n.82-157A>G | ||
| ENST00000668754.1:c.-903-157A>G | ENSP00000499569.1:n.-903-157A>G | |
| ENST00000674755.1:n.233-157A>G | ||
| ENST00000675269.1:n.125-157A>G | ||
| ENST00000676333.1:n.39-157A>G | ||
| XM_011534335.1:c.49-157A>G | XP_011532637.1:n.49-157A>G | |
| XM_011534336.1:c.49-157A>G | XP_011532638.1:n.49-157A>G | |
| XR_940736.1:n.79-157A>G | ||
| XR_940737.1:n.79-157A>G | ||
| XR_940738.1:n.79-157A>G | ||
| XR_940739.1:n.79-157A>G | ||
| NM_001349253.1:c.-403-157A>G | NP_001336182.1:n.-403-157A>G | |
| NM_001349253.2:c.-403-157A>G MANE Select | NP_001336182.1:n.-403-157A>G | |
| NR_164473.1:n.85-157A>G |