gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55540852 (AMR)
Genomes Max Group AF
0.55540852 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.132703495C>T , CM000673.2:g.132703495C>T | GRCh38 |
| NC_000011.9:g.132573390C>T , CM000673.1:g.132573390C>T | GRCh37 |
| NC_000011.8:g.132078600C>T | NCBI36 |
| NG_012107.1:g.834014G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541867.6:c.168-46176G>A | ENSP00000445496.1:n.168-46176G>A | |
| ENST00000524381.6:c.147-46176G>A MANE Select | ENSP00000434750.1:n.147-46176G>A | |
| ENST00000331898.11:c.168-46176G>A | ENSP00000330862.7:n.168-46176G>A | |
| ENST00000374778.4:c.45-46176G>A | ENSP00000363910.4:n.45-46176G>A | |
| ENST00000524381.5:c.147-46176G>A | ENSP00000434750.1:n.147-46176G>A | |
| ENST00000525412.1:n.86-46176G>A | ||
| ENST00000529038.5:n.140-46176G>A | ||
| ENST00000541867.5:c.168-46176G>A | ENSP00000445496.1:n.168-46176G>A | |
| ENST00000612177.4:c.168-46176G>A | ENSP00000482061.1:n.168-46176G>A | |
| NM_001012393.1:c.147-46176G>A | NP_001012393.1:n.147-46176G>A | |
| NM_002545.3:c.168-46176G>A | NP_002536.1:n.168-46176G>A | |
| XM_005271574.2:c.168-46176G>A | XP_005271631.1:n.168-46176G>A | |
| XM_006718846.1:c.147-46176G>A | XP_006718909.1:n.147-46176G>A | |
| XM_011542856.1:c.45-46176G>A | XP_011541158.1:n.45-46176G>A | |
| NM_001012393.2:c.147-46176G>A | NP_001012393.1:n.147-46176G>A | |
| NM_001319103.1:c.168-46176G>A | NP_001306032.1:n.168-46176G>A | |
| NM_001319104.1:c.-133-46176G>A | NP_001306033.1:n.-133-46176G>A | |
| NM_001319105.1:c.45-46176G>A | NP_001306034.1:n.45-46176G>A | |
| NM_001319106.1:c.168-46176G>A | NP_001306035.1:n.168-46176G>A | |
| NM_002545.4:c.168-46176G>A | NP_002536.1:n.168-46176G>A | |
| XM_006718846.3:c.147-46176G>A | XP_006718909.1:n.147-46176G>A | |
| XM_011542856.3:c.45-46176G>A | XP_011541158.1:n.45-46176G>A | |
| NM_001012393.3:c.147-46176G>A | NP_001012393.1:n.147-46176G>A | |
| NM_001319104.2:c.-133-46176G>A | NP_001306033.1:n.-133-46176G>A | |
| NM_001012393.5:c.147-46176G>A MANE Select | NP_001012393.1:n.147-46176G>A | |
| NM_001319103.2:c.168-46176G>A | NP_001306032.1:n.168-46176G>A | |
| NM_001319104.4:c.-133-46176G>A | NP_001306033.1:n.-133-46176G>A | |
| NM_001319105.2:c.45-46176G>A | NP_001306034.1:n.45-46176G>A | |
| NM_001319106.2:c.168-46176G>A | NP_001306035.1:n.168-46176G>A | |
| NM_002545.5:c.168-46176G>A | NP_002536.1:n.168-46176G>A |