gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00028082 (AFR)
Genomes Max Group AF
0.00028082 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.132959967A>C , CM000673.2:g.132959967A>C | GRCh38 |
| NC_000011.9:g.132829862A>C , CM000673.1:g.132829862A>C | GRCh37 |
| NC_000011.8:g.132335072A>C | NCBI36 |
| NG_012107.1:g.577542T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524381.6:c.62-16957T>G MANE Select | ENSP00000434750.1:n.62-16957T>G | |
| ENST00000524381.5:c.62-16957T>G | ENSP00000434750.1:n.62-16957T>G | |
| ENST00000529038.5:n.140-302648T>G | ||
| NM_001012393.1:c.62-16957T>G | NP_001012393.1:n.62-16957T>G | |
| XM_006718846.1:c.62-16957T>G | XP_006718909.1:n.62-16957T>G | |
| XM_011542856.1:c.-41-16957T>G | XP_011541158.1:n.-41-16957T>G | |
| XR_948205.1:n.33A>C | ||
| NM_001012393.2:c.62-16957T>G | NP_001012393.1:n.62-16957T>G | |
| NM_001319104.1:c.-133-302648T>G | NP_001306033.1:n.-133-302648T>G | |
| XM_006718846.3:c.62-16957T>G | XP_006718909.1:n.62-16957T>G | |
| XM_011542856.3:c.-41-16957T>G | XP_011541158.1:n.-41-16957T>G | |
| XR_948205.2:n.21A>C | ||
| NM_001012393.3:c.62-16957T>G | NP_001012393.1:n.62-16957T>G | |
| NM_001319104.2:c.-133-302648T>G | NP_001306033.1:n.-133-302648T>G | |
| NM_001012393.5:c.62-16957T>G MANE Select | NP_001012393.1:n.62-16957T>G | |
| NM_001319104.4:c.-133-302648T>G | NP_001306033.1:n.-133-302648T>G |