gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60243455 (NFE)
Genomes Max Group AF
0.60243455 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.127880410T>C , CM000672.2:g.127880410T>C | GRCh38 |
| NC_000010.10:g.129678674T>C , CM000672.1:g.129678674T>C | GRCh37 |
| NC_000010.9:g.129568664T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368671.4:c.410-1990A>G MANE Select | ENSP00000357660.3:n.410-1990A>G | |
| ENST00000368671.3:c.410-1990A>G | ENSP00000357660.3:n.410-1990A>G | |
| NM_152311.3:c.410-1990A>G | NP_689524.1:n.410-1990A>G | |
| XM_011539274.1:c.230-1990A>G | XP_011537576.1:n.230-1990A>G | |
| NM_152311.4:c.410-1990A>G | NP_689524.1:n.410-1990A>G | |
| XM_011539274.2:c.230-1990A>G | XP_011537576.1:n.230-1990A>G | |
| NM_152311.5:c.410-1990A>G MANE Select | NP_689524.1:n.410-1990A>G |