gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39645393 (EAS)
Genomes Max Group AF
0.39645393 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.21380911A>G , CM000679.2:g.21380911A>G | GRCh38 |
| NC_000017.10:g.21284223A>G , CM000679.1:g.21284223A>G | GRCh37 |
| NC_000017.9:g.21224816A>G | NCBI36 |
| NG_042809.1:g.9525A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000583088.6:c.-179+3998A>G MANE Select | ENSP00000463778.1:n.-179+3998A>G | |
| ENST00000583088.5:c.-179+3998A>G | ENSP00000463778.1:n.-179+3998A>G | |
| NM_021012.4:c.-179+3998A>G | NP_066292.2:n.-179+3998A>G | |
| XM_005256625.3:c.-179+3585A>G | XP_005256682.1:n.-179+3585A>G | |
| XM_005256625.5:c.-179+3585A>G | XP_005256682.1:n.-179+3585A>G | |
| NM_021012.5:c.-179+3998A>G MANE Select | NP_066292.2:n.-179+3998A>G |