gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06442328 (NFE)
Genomes Max Group AF
0.06442328 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.134278109T>C , CM000668.2:g.134278109T>C | GRCh38 |
| NC_000006.11:g.134599247T>C , CM000668.1:g.134599247T>C | GRCh37 |
| NC_000006.10:g.134640940T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367858.10:c.70-15961A>G MANE Select | ENSP00000356832.5:n.70-15961A>G | |
| ENST00000367858.9:c.70-15961A>G | ENSP00000356832.5:n.70-15961A>G | |
| ENST00000461976.2:c.-24-15961A>G | ENSP00000435577.1:n.-24-15961A>G | |
| ENST00000524929.1:c.70-15961A>G | ENSP00000435724.1:n.70-15961A>G | |
| ENST00000533224.1:c.70-15961A>G | ENSP00000436470.1:n.70-15961A>G | |
| NM_001143676.1:c.70-15961A>G | NP_001137148.1:n.70-15961A>G | |
| XM_011536071.1:c.70-15961A>G | XP_011534373.1:n.70-15961A>G | |
| NM_001143676.3:c.70-15961A>G MANE Select | NP_001137148.1:n.70-15961A>G |