gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99323932 (NFE)
Genomes Max Group AF
0.99323932 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71790705C>T , CM000666.2:g.71790705C>T | GRCh38 |
| NC_000004.11:g.72656422C>T , CM000666.1:g.72656422C>T | GRCh37 |
| NC_000004.10:g.72875286C>T | NCBI36 |
| NG_012837.2:g.19816G>A | |
| NG_012837.3:g.19816G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504199.5:c.22-6651G>A | ENSP00000421725.1:n.22-6651G>A | |
| NM_001204306.1:c.-36-6651G>A | NP_001191235.1:n.-36-6651G>A | |
| NM_001204307.1:c.22-6651G>A | NP_001191236.1:n.22-6651G>A |