gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51909733 (EAS)
Genomes Max Group AF
0.51909733 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38515788T>C , CM000668.2:g.38515788T>C | GRCh38 |
| NC_000006.11:g.38483564T>C , CM000668.1:g.38483564T>C | GRCh37 |
| NC_000006.10:g.38591542T>C | NCBI36 |
| NG_016545.1:g.129361A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481247.6:c.1154+61812A>G MANE Select | ENSP00000418751.1:n.1154+61812A>G | |
| ENST00000649492.1:c.1154+61812A>G | ENSP00000497066.1:n.1154+61812A>G | |
| ENST00000314100.10:c.950+61812A>G | ENSP00000323408.6:n.950+61812A>G | |
| ENST00000328403.10:c.951-11226A>G | ENSP00000328328.6:n.951-11226A>G | |
| ENST00000419706.6:c.977+61812A>G | ENSP00000415365.2:n.977+61812A>G | |
| ENST00000481247.5:c.1154+61812A>G | ENSP00000418751.1:n.1154+61812A>G | |
| NM_001099272.1:c.1154+61812A>G | NP_001092742.1:n.1154+61812A>G | |
| NM_001172418.1:c.977+61812A>G | NP_001165889.1:n.977+61812A>G | |
| NM_052893.1:c.1154+61812A>G | NP_443125.1:n.1154+61812A>G | |
| NM_152733.2:c.950+61812A>G | NP_689946.2:n.950+61812A>G | |
| XM_005248841.2:c.1154+61812A>G | XP_005248898.1:n.1154+61812A>G | |
| XM_011514279.1:c.1154+61812A>G | XP_011512581.1:n.1154+61812A>G | |
| XM_011514281.1:c.1154+61812A>G | XP_011512583.1:n.1154+61812A>G | |
| XM_011514279.3:c.1154+61812A>G | XP_011512581.1:n.1154+61812A>G | |
| XM_011514281.3:c.1154+61812A>G | XP_011512583.1:n.1154+61812A>G | |
| NM_001099272.2:c.1154+61812A>G MANE Select | NP_001092742.1:n.1154+61812A>G | |
| NM_052893.2:c.1154+61812A>G | NP_443125.1:n.1154+61812A>G | |
| NM_001172418.2:c.977+61812A>G | NP_001165889.1:n.977+61812A>G | |
| NM_152733.3:c.950+61812A>G | NP_689946.2:n.950+61812A>G |