gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30502732 (EAS)
Genomes Max Group AF
0.30502732 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.115395450T>C , CM000671.2:g.115395450T>C | GRCh38 |
| NC_000009.11:g.118157729T>C , CM000671.1:g.118157729T>C | GRCh37 |
| NC_000009.10:g.117197550T>C | NCBI36 |
| NG_027530.1:g.258633T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374016.5:c.14-4909T>C | ENSP00000363128.1:n.14-4909T>C | |
| NM_017418.2:c.14-4909T>C | NP_059114.1:n.14-4909T>C | |
| XM_011518753.1:c.14-4909T>C | XP_011517055.1:n.14-4909T>C | |
| NR_163556.1:n.536-4909T>C |