gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001646 (NFE)
Exomes Max Group AF
0.00001664 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133256179C>A , CM000671.2:g.133256179C>A | GRCh38 |
| NC_000009.11:g.136131566C>A , CM000671.1:g.136131566C>A | GRCh37 |
| NC_000009.10:g.135121387C>A | NCBI36 |
| NG_006669.1:g.21489G>T | |
| NG_006669.2:g.24037G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.581G>T | ||
| ENST00000647353.1:n.54-5027G>T | ||
| ENST00000651471.1:n.507G>T | ||
| ENST00000679909.1:c.28+18983G>T | ENSP00000506089.1:n.28+18983G>T | |
| ENST00000453660.3:n.563G>T | ||
| ENST00000538324.2:c.549G>T | ENSP00000483018.1:p.Val183= | |
| ENST00000611156.4:c.549G>T | ENSP00000483265.1:p.Val183= | |
| NM_020469.2:c.552G>T | NP_065202.2:p.Val184= | |
| NM_020469.3:c.552G>T | NP_065202.2:p.Val184= |