dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.87195584 (EAS)
Genomes Max Group AF
0.87195584 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.66349388G>T , CM000663.2:g.66349388G>T | GRCh38 |
| NC_000001.10:g.66815071G>T , CM000663.1:g.66815071G>T | GRCh37 |
| NC_000001.9:g.66587659G>T | NCBI36 |
| NG_029038.1:g.561879G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341517.9:c.748-6139G>T MANE Select | ENSP00000342637.4:n.748-6139G>T | |
| ENST00000329654.8:c.748-6139G>T | ENSP00000332116.4:n.748-6139G>T | |
| ENST00000341517.8:c.748-6139G>T | ENSP00000342637.4:n.748-6139G>T | |
| ENST00000371045.9:c.232-6139G>T | ENSP00000360084.5:n.232-6139G>T | |
| ENST00000423207.6:c.703-6139G>T | ENSP00000392947.2:n.703-6139G>T | |
| ENST00000526197.5:c.91-6139G>T | ENSP00000436104.1:n.91-6139G>T | |
| ENST00000528771.5:c.91-6139G>T | ENSP00000431909.1:n.91-6139G>T | |
| ENST00000531025.5:c.91-6139G>T | ENSP00000437249.1:n.91-6139G>T | |
| NM_001037339.2:c.232-6139G>T | NP_001032416.1:n.232-6139G>T | |
| NM_001037340.2:c.703-6139G>T | NP_001032417.1:n.703-6139G>T | |
| NM_001037341.1:c.748-6139G>T | NP_001032418.1:n.748-6139G>T | |
| NM_001297440.1:c.472-6139G>T | NP_001284369.1:n.472-6139G>T | |
| NM_001297441.1:c.523-6139G>T | NP_001284370.1:n.523-6139G>T | |
| NM_002600.3:c.748-6139G>T | NP_002591.2:n.748-6139G>T | |
| XM_005270923.3:c.157-6139G>T | XP_005270980.1:n.157-6139G>T | |
| XM_005270924.3:c.91-6139G>T | XP_005270981.1:n.91-6139G>T | |
| XM_005270925.2:c.91-6139G>T | XP_005270982.1:n.91-6139G>T | |
| XM_006710680.2:c.133-6139G>T | XP_006710743.1:n.133-6139G>T | |
| XM_011541565.1:c.484-6139G>T | XP_011539867.1:n.484-6139G>T | |
| XM_011541566.1:c.130-6139G>T | XP_011539868.1:n.130-6139G>T | |
| XM_006710680.3:c.133-6139G>T | XP_006710743.1:n.133-6139G>T | |
| XM_017001445.1:c.331-6139G>T | XP_016856934.1:n.331-6139G>T | |
| NM_002600.4:c.748-6139G>T MANE Select | NP_002591.2:n.748-6139G>T | |
| NM_001037340.3:c.703-6139G>T | NP_001032417.1:n.703-6139G>T | |
| NM_001037341.2:c.748-6139G>T | NP_001032418.1:n.748-6139G>T | |
| NM_001297440.2:c.472-6139G>T | NP_001284369.1:n.472-6139G>T |