gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21152985 (MID)
Genomes Max Group AF
0.14542939 (SAS)
Exomes Max Group AF
0.21410803 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.129766734A>G , CM000672.2:g.129766734A>G | GRCh38 |
| NC_000010.10:g.131564998A>G , CM000672.1:g.131564998A>G | GRCh37 |
| NC_000010.9:g.131454988A>G | NCBI36 |
| NG_052673.1:g.304551A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306010.8:c.508-54A>G | ENSP00000302111.7:n.508-54A>G | |
| ENST00000651593.1:c.415-54A>G MANE Select | ENSP00000498729.1:n.415-54A>G | |
| ENST00000306010.7:c.508-54A>G | ENSP00000302111.7:n.508-54A>G | |
| NM_002412.3:c.508-54A>G | NP_002403.2:n.508-54A>G | |
| NM_002412.4:c.508-54A>G | NP_002403.2:n.508-54A>G | |
| XM_005252682.2:c.415-54A>G | XP_005252739.1:n.415-54A>G | |
| XM_006717863.2:c.238-54A>G | XP_006717926.1:n.238-54A>G | |
| XM_011539817.1:c.424-54A>G | XP_011538119.1:n.424-54A>G | |
| NM_002412.5:c.415-54A>G MANE Select | NP_002403.3:n.415-54A>G | |
| XM_017016275.1:c.238-54A>G | XP_016871764.1:n.238-54A>G |