ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64758351T>C , CM000673.2:g.64758351T>C | GRCh38 |
| NC_000011.9:g.64525823T>C , CM000673.1:g.64525823T>C | GRCh37 |
| NC_000011.8:g.64282399T>C | NCBI36 |
| NG_013018.1:g.7365A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.425-2A>G MANE Select | ENSP00000164139.3:n.425-2A>G | |
| ENST00000164139.3:c.425-2A>G | ENSP00000164139.3:n.425-2A>G | |
| ENST00000377432.7:c.244-85A>G | ENSP00000366650.3:n.244-85A>G | |
| NM_001164716.1:c.244-85A>G | NP_001158188.1:n.244-85A>G | |
| NM_005609.2:c.425-2A>G | NP_005600.1:n.425-2A>G | |
| NM_005609.3:c.425-2A>G | NP_005600.1:n.425-2A>G | |
| NM_005609.4:c.425-2A>G MANE Select | NP_005600.1:n.425-2A>G |