gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41077379 (AFR)
Genomes Max Group AF
0.41077379 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.176715296A>G , CM000663.2:g.176715296A>G | GRCh38 |
| NC_000001.10:g.176684432A>G , CM000663.1:g.176684432A>G | GRCh37 |
| NC_000001.9:g.174951055A>G | NCBI36 |
| NG_023390.1:g.257126A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367662.5:c.3798+3315A>G MANE Select | ENSP00000356634.3:n.3798+3315A>G | |
| ENST00000367662.4:c.3798+3315A>G | ENSP00000356634.3:n.3798+3315A>G | |
| NM_020318.2:c.3798+3315A>G | NP_064714.2:n.3798+3315A>G | |
| XM_005245422.2:c.3798+3315A>G | XP_005245479.1:n.3798+3315A>G | |
| XM_011509857.1:c.3798+3315A>G | XP_011508159.1:n.3798+3315A>G | |
| XM_011509858.1:c.3798+3315A>G | XP_011508160.1:n.3798+3315A>G | |
| XM_011509859.1:c.3798+3315A>G | XP_011508161.1:n.3798+3315A>G | |
| XR_921907.1:n.4962+3315A>G | ||
| XM_005245422.3:c.3798+3315A>G | XP_005245479.1:n.3798+3315A>G | |
| XM_011509858.2:c.3798+3315A>G | XP_011508160.1:n.3798+3315A>G | |
| XM_017002023.1:c.3798+3315A>G | XP_016857512.1:n.3798+3315A>G | |
| XM_017002024.1:c.3798+3315A>G | XP_016857513.1:n.3798+3315A>G | |
| XM_017002025.2:c.3798+3315A>G | XP_016857514.1:n.3798+3315A>G | |
| XR_921907.2:n.4974+3315A>G | ||
| NM_020318.3:c.3798+3315A>G MANE Select | NP_064714.2:n.3798+3315A>G |