gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72695887 (EAS)
Genomes Max Group AF
0.72695887 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10695414T>C , CM000667.2:g.10695414T>C | GRCh38 |
| NC_000005.9:g.10695526T>C , CM000667.1:g.10695526T>C | GRCh37 |
| NC_000005.8:g.10748526T>C | NCBI36 |
| NG_011546.1:g.70862A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230895.11:c.153-11843A>G MANE Select | ENSP00000230895.7:n.153-11843A>G | |
| ENST00000230895.10:c.153-11843A>G | ENSP00000230895.6:n.153-11843A>G | |
| ENST00000432074.2:c.153-14245A>G | ENSP00000394163.2:n.153-14245A>G | |
| ENST00000508253.5:n.310-11843A>G | ||
| ENST00000514882.5:n.221-11843A>G | ||
| NM_001291963.1:c.153-14245A>G | NP_001278892.1:n.153-14245A>G | |
| NM_004394.2:c.153-11843A>G | NP_004385.1:n.153-11843A>G | |
| NM_001291963.2:c.153-14245A>G | NP_001278892.1:n.153-14245A>G | |
| NM_004394.3:c.153-11843A>G MANE Select | NP_004385.1:n.153-11843A>G |