dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.87212753 (AFR)
Genomes Max Group AF
0.87212753 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121957871A>G , CM000674.2:g.121957871A>G | GRCh38 |
| NC_000012.11:g.122395777A>G , CM000674.1:g.122395777A>G | GRCh37 |
| NC_000012.10:g.120880160A>G | NCBI36 |
| NG_021364.1:g.44315A>G | |
| NG_021364.2:g.44315A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288912.9:c.1731-401A>G MANE Select | ENSP00000288912.4:n.1731-401A>G | |
| ENST00000288912.8:c.1731-401A>G | ENSP00000288912.4:n.1731-401A>G | |
| ENST00000397454.2:c.1731-401A>G | ENSP00000380595.2:n.1731-401A>G | |
| ENST00000535257.1:n.1836-401A>G | ||
| ENST00000543211.5:n.4278-401A>G | ||
| NM_001178003.1:c.1731-401A>G | NP_001171474.1:n.1731-401A>G | |
| NM_144668.5:c.1731-401A>G | NP_653269.3:n.1731-401A>G | |
| NM_144668.6:c.1731-401A>G MANE Select | NP_653269.3:n.1731-401A>G | |
| NM_001178003.2:c.1731-401A>G | NP_001171474.1:n.1731-401A>G |