gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51342023 (AMR)
Genomes Max Group AF
0.51231198 (AMR)
Exomes Max Group AF
0.51136165 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.10160476T>C , CM000674.2:g.10160476T>C | GRCh38 |
| NC_000012.11:g.10313075T>C , CM000674.1:g.10313075T>C | GRCh37 |
| NC_000012.10:g.10204342T>C | NCBI36 |
| NG_016743.1:g.16716A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309539.8:c.565-14A>G MANE Select | ENSP00000309124.3:n.565-14A>G | |
| ENST00000309539.7:c.565-14A>G | ENSP00000309124.3:n.565-14A>G | |
| ENST00000339968.6:c.253-14A>G | ENSP00000340572.6:n.253-14A>G | |
| ENST00000432556.6:c.425-14A>G | ENSP00000405116.2:n.425-14A>G | |
| ENST00000536989.1:n.86A>G | ||
| ENST00000538745.5:c.253-14A>G | ENSP00000438925.2:n.253-14A>G | |
| ENST00000539518.5:c.406-14A>G | ENSP00000442389.1:n.406-14A>G | |
| ENST00000543993.5:c.113-14A>G | ENSP00000445085.1:n.113-14A>G | |
| ENST00000544577.5:c.425-523A>G | ENSP00000444457.1:n.425-523A>G | |
| ENST00000545927.5:c.564+310A>G | ENSP00000439251.1:n.564+310A>G | |
| NM_001172632.1:c.425-14A>G | NP_001166103.1:n.425-14A>G | |
| NM_001172633.1:c.564+310A>G | NP_001166104.1:n.564+310A>G | |
| NM_002543.3:c.565-14A>G | NP_002534.1:n.565-14A>G | |
| XM_011520682.1:c.565-14A>G | XP_011518984.1:n.565-14A>G | |
| XM_011520683.1:c.604A>G | XP_011518985.1:p.Ile202Val | |
| NM_002543.4:c.565-14A>G MANE Select | NP_002534.1:n.565-14A>G | |
| NM_001172632.2:c.425-14A>G | NP_001166103.1:n.425-14A>G | |
| NM_001172633.2:c.564+310A>G | NP_001166104.1:n.564+310A>G |