gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000529 (AMR)
Genomes Max Group AF
0.0000529 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.153855979A>G , CM000669.2:g.153855979A>G | GRCh38 |
| NC_000007.13:g.153553064A>G , CM000669.1:g.153553064A>G | GRCh37 |
| NC_000007.12:g.153183997A>G | NCBI36 |
| NG_033878.2:g.112994A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706130.1:c.60+106971A>G | ENSP00000516215.1:n.60+106971A>G | |
| NM_001364497.1:c.60+106971A>G | NP_001351426.1:n.60+106971A>G | |
| NM_001364498.1:c.60+106971A>G | NP_001351427.1:n.60+106971A>G | |
| NM_001364499.1:c.60+106971A>G | NP_001351428.1:n.60+106971A>G | |
| NM_001364500.1:c.60+106971A>G | NP_001351429.1:n.60+106971A>G | |
| XR_001745002.1:n.701A>G | ||
| NM_001364497.2:c.60+106971A>G | NP_001351426.1:n.60+106971A>G | |
| NM_001364498.2:c.60+106971A>G | NP_001351427.1:n.60+106971A>G | |
| NM_001364499.2:c.60+106971A>G | NP_001351428.1:n.60+106971A>G | |
| NM_001364500.2:c.60+106971A>G | NP_001351429.1:n.60+106971A>G |