gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56574297 (EAS)
Genomes Max Group AF
0.56574297 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.25259553G>T , CM000682.2:g.25259553G>T | GRCh38 |
| NC_000020.10:g.25240189G>T , CM000682.1:g.25240189G>T | GRCh37 |
| NC_000020.9:g.25188189G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216962.9:c.345+215G>T MANE Select | ENSP00000216962.3:n.345+215G>T | |
| ENST00000216962.8:c.345+215G>T | ENSP00000216962.3:n.345+215G>T | |
| NM_002862.3:c.345+215G>T | NP_002853.2:n.345+215G>T | |
| XR_002958496.1:n.485+215G>T | ||
| NM_002862.4:c.345+215G>T MANE Select | NP_002853.2:n.345+215G>T |