gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47752589 (AFR)
Genomes Max Group AF
0.46998096 (AFR)
Exomes Max Group AF
0.48316513 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.53229264C>T , CM000670.2:g.53229264C>T | GRCh38 |
| NC_000008.10:g.54141824C>T , CM000670.1:g.54141824C>T | GRCh37 |
| NC_000008.9:g.54304377C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265572.8:c.*33G>A MANE Select | ENSP00000265572.3:n.*33G>A | |
| ENST00000673285.2:c.1176G>A | ENSP00000500765.2:p.Ser392= | |
| ENST00000265572.7:c.*33G>A | ENSP00000265572.3:n.*33G>A | |
| ENST00000520287.5:c.*33G>A | ENSP00000429706.1:n.*33G>A | |
| ENST00000522508.1:c.*999G>A | ENSP00000428231.1:n.*999G>A | |
| ENST00000524278.5:c.*33G>A | ENSP00000430923.1:n.*33G>A | |
| ENST00000612786.4:c.*33G>A | ENSP00000483000.1:n.*33G>A | |
| ENST00000613482.1:c.1134G>A | ENSP00000478453.1:n.1134G>A | |
| NM_000912.3:c.*33G>A | NP_000903.2:n.*33G>A | |
| NM_001282904.1:c.*33G>A | NP_001269833.1:n.*33G>A | |
| NM_000912.4:c.*33G>A | NP_000903.2:n.*33G>A | |
| NM_001318497.1:c.1176G>A | NP_001305426.1:p.Ser392= | |
| NM_000912.5:c.*33G>A MANE Select | NP_000903.2:n.*33G>A | |
| NM_001318497.2:c.1176G>A | NP_001305426.1:p.Ser392= | |
| NM_001282904.2:c.*33G>A | NP_001269833.1:n.*33G>A |