gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38724235 (EAS)
Genomes Max Group AF
0.38724235 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.159677190G>A , CM000668.2:g.159677190G>A | GRCh38 |
| NC_000006.11:g.160098222G>A , CM000668.1:g.160098222G>A | GRCh37 |
| NC_000006.10:g.160018212G>A | NCBI36 |
| NG_008729.1:g.21132C>T | |
| NG_008729.3:g.90340C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000538183.7:c.*5303C>T MANE Select | ENSP00000446252.1:n.*5303C>T | |
| ENST00000538183.6:c.*5303C>T | ENSP00000446252.1:n.*5303C>T | |
| NM_000636.4:c.*5303C>T MANE Select | NP_000627.2:n.*5303C>T | |
| NM_001322814.2:c.*5303C>T | NP_001309743.1:n.*5303C>T | |
| NM_001322815.2:c.*5303C>T | NP_001309744.1:n.*5303C>T | |
| NM_001322819.2:c.*5303C>T | NP_001309748.1:n.*5303C>T | |
| NM_001322820.2:c.*5303C>T | NP_001309749.1:n.*5303C>T |