gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29821946 (SAS)
Genomes Max Group AF
0.29821946 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.168829235G>A , CM000667.2:g.168829235G>A | GRCh38 |
| NC_000005.9:g.168256240G>A , CM000667.1:g.168256240G>A | GRCh37 |
| NC_000005.8:g.168188818G>A | NCBI36 |
| NG_033081.1:g.476894C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519560.6:c.558-5904C>T MANE Select | ENSP00000430333.2:n.558-5904C>T | |
| ENST00000332966.8:c.558-5904C>T | ENSP00000332164.8:n.558-5904C>T | |
| ENST00000404867.7:c.147-5904C>T | ENSP00000384890.4:n.147-5904C>T | |
| ENST00000518140.5:n.595-5904C>T | ||
| ENST00000519560.5:c.558-5904C>T | ENSP00000430333.1:n.558-5904C>T | |
| ENST00000521150.1:n.250-5904C>T | ||
| NM_001271946.1:c.558-5904C>T | NP_001258875.1:n.558-5904C>T | |
| NM_003062.3:c.558-5904C>T | NP_003053.1:n.558-5904C>T | |
| XM_017009779.1:c.369-5904C>T | XP_016865268.1:n.369-5904C>T | |
| NM_001271946.2:c.558-5904C>T | NP_001258875.2:n.558-5904C>T | |
| NM_003062.4:c.558-5904C>T MANE Select | NP_003053.2:n.558-5904C>T |