gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47555526 (EAS)
Genomes Max Group AF
0.47555526 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.133650423T>G , CM000669.2:g.133650423T>G | GRCh38 |
| NC_000007.13:g.133335176T>G , CM000669.1:g.133335176T>G | GRCh37 |
| NC_000007.12:g.132985716T>G | NCBI36 |
| NG_047176.1:g.402357T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253861.5:c.1514+20282T>G MANE Select | ENSP00000253861.4:n.1514+20282T>G | |
| ENST00000253861.4:c.1514+20282T>G | ENSP00000253861.4:n.1514+20282T>G | |
| ENST00000460346.5:n.270+20282T>G | ||
| ENST00000469115.5:n.397+20282T>G | ||
| ENST00000479839.6:n.402+20282T>G | ||
| ENST00000482089.5:n.270+20282T>G | ||
| ENST00000483800.5:n.251+20282T>G | ||
| ENST00000489931.5:n.270+20282T>G | ||
| NM_021807.3:c.1514+20282T>G | NP_068579.3:n.1514+20282T>G | |
| XM_017012494.2:c.344+20282T>G | XP_016867983.1:n.344+20282T>G | |
| XR_001744845.2:n.1541+20282T>G | ||
| NM_021807.4:c.1514+20282T>G MANE Select | NP_068579.3:n.1514+20282T>G |