gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26643092 (EAS)
Genomes Max Group AF
0.26643092 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.63555637G>C , CM000672.2:g.63555637G>C | GRCh38 |
| NC_000010.10:g.65315397G>C , CM000672.1:g.65315397G>C | GRCh37 |
| NC_000010.9:g.64985403G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373758.5:c.33-10701G>C MANE Select | ENSP00000362863.4:n.33-10701G>C | |
| ENST00000373758.4:c.33-10701G>C | ENSP00000362863.4:n.33-10701G>C | |
| NM_001001330.2:c.33-10701G>C | NP_001001330.1:n.33-10701G>C | |
| XM_011539501.1:c.33-10701G>C | XP_011537803.1:n.33-10701G>C | |
| XM_011539501.2:c.33-10701G>C | XP_011537803.1:n.33-10701G>C | |
| XM_017015896.1:c.33-10701G>C | XP_016871385.1:n.33-10701G>C | |
| NM_001001330.3:c.33-10701G>C MANE Select | NP_001001330.1:n.33-10701G>C |