gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15900469 (EAS)
Genomes Max Group AF
0.15900469 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98490944T>C , CM000671.2:g.98490944T>C | GRCh38 |
| NC_000009.11:g.101253226T>C , CM000671.1:g.101253226T>C | GRCh37 |
| NC_000009.10:g.100293047T>C | NCBI36 |
| NG_016426.1:g.223254A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.732+5469A>G MANE Select | ENSP00000259455.2:n.732+5469A>G | |
| ENST00000637410.1:n.510+5469A>G | ||
| ENST00000259455.3:c.732+5469A>G | ENSP00000259455.2:n.732+5469A>G | |
| ENST00000477471.1:n.519+5469A>G | ||
| ENST00000634227.1:n.506+5469A>G | ||
| ENST00000634919.1:n.510+5022A>G | ||
| NM_005458.7:c.732+5469A>G | NP_005449.5:n.732+5469A>G | |
| XM_005252316.3:c.-43+5469A>G | XP_005252373.1:n.-43+5469A>G | |
| XM_005252316.5:c.-43+5469A>G | XP_005252373.1:n.-43+5469A>G | |
| XM_017015331.2:c.438+5469A>G | XP_016870820.1:n.438+5469A>G | |
| NM_005458.8:c.732+5469A>G MANE Select | NP_005449.5:n.732+5469A>G |