gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40135533 (EAS)
Genomes Max Group AF
0.40135533 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122455682A>G , CM000672.2:g.122455682A>G | GRCh38 |
| NC_000010.10:g.124215198A>G , CM000672.1:g.124215198A>G | GRCh37 |
| NC_000010.9:g.124205188A>G | NCBI36 |
| NG_011725.1:g.6020A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528446.1:c.297+658A>G MANE Select | ENSP00000436682.1:n.297+658A>G | |
| NM_001099667.1:c.297+658A>G | NP_001093137.1:n.297+658A>G | |
| XR_946382.1:n.1827+2813T>C | ||
| XR_946383.1:n.1827+2813T>C | ||
| XR_946384.1:n.1576+2813T>C | ||
| XR_946385.1:n.1828-661T>C | ||
| NM_001099667.2:c.297+658A>G | NP_001093137.1:n.297+658A>G | |
| XR_946382.2:n.1855+2813T>C | ||
| XR_946383.2:n.1855+2813T>C | ||
| XR_946384.2:n.1580+2813T>C | ||
| XR_946385.2:n.1856-661T>C | ||
| NM_001099667.3:c.297+658A>G MANE Select | NP_001093137.1:n.297+658A>G |