gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37134897 (EAS)
Genomes Max Group AF
0.37134897 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.22329059T>C , CM000669.2:g.22329059T>C | GRCh38 |
| NC_000007.13:g.22368678T>C , CM000669.1:g.22368678T>C | GRCh37 |
| NC_000007.12:g.22335203T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000665637.1:c.232-11022A>G MANE Select | ENSP00000499535.1:n.232-11022A>G | |
| ENST00000344041.10:c.-228-11022A>G | ENSP00000343656.6:n.-228-11022A>G | |
| ENST00000405243.1:c.232-11022A>G | ENSP00000384870.1:n.232-11022A>G | |
| ENST00000471484.1:n.249-11022A>G | ||
| NM_012294.3:c.-228-11022A>G | NP_036426.3:n.-228-11022A>G | |
| XM_005249914.2:c.232-11022A>G | XP_005249971.1:n.232-11022A>G | |
| XM_005249916.1:c.-228-11022A>G | XP_005249973.1:n.-228-11022A>G | |
| NM_012294.4:c.232-11022A>G | NP_036426.4:n.232-11022A>G | |
| NM_012294.5:c.232-11022A>G MANE Select | NP_036426.4:n.232-11022A>G |