gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40407793 (EAS)
Genomes Max Group AF
0.40407793 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.115381654C>T , CM000671.2:g.115381654C>T | GRCh38 |
| NC_000009.11:g.118143933C>T , CM000671.1:g.118143933C>T | GRCh37 |
| NC_000009.10:g.117183754C>T | NCBI36 |
| NG_027530.1:g.244837C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374016.5:c.13+4939C>T | ENSP00000363128.1:n.13+4939C>T | |
| NM_017418.2:c.13+4939C>T | NP_059114.1:n.13+4939C>T | |
| XM_011518753.1:c.13+4939C>T | XP_011517055.1:n.13+4939C>T | |
| NR_163556.1:n.535+4939C>T |