gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.115129 (NFE)
Genomes Max Group AF
0.11213013 (NFE)
Exomes Max Group AF
0.11520084 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153390629T>C , CM000663.2:g.153390629T>C | GRCh38 |
| NC_000001.10:g.153363105T>C , CM000663.1:g.153363105T>C | GRCh37 |
| NC_000001.9:g.151629729T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368733.4:c.-22-72A>G MANE Select | ENSP00000357722.3:n.-22-72A>G | |
| ENST00000368732.5:c.-22-72A>G | ENSP00000357721.1:n.-22-72A>G | |
| ENST00000368733.3:c.-22-72A>G | ENSP00000357722.3:n.-22-72A>G | |
| ENST00000477801.1:n.443A>G | ||
| NM_002964.4:c.-22-72A>G | NP_002955.2:n.-22-72A>G | |
| XM_011509861.1:c.3-72A>G | XP_011508163.1:n.3-72A>G | |
| NM_001319196.1:c.34-55A>G | NP_001306125.1:n.34-55A>G | |
| NM_001319197.1:c.34-58A>G | NP_001306126.1:n.34-58A>G | |
| NM_001319198.1:c.3-72A>G | NP_001306127.1:n.3-72A>G | |
| NM_001319201.1:c.-22-72A>G | NP_001306130.1:n.-22-72A>G | |
| NM_002964.5:c.-22-72A>G MANE Select | NP_002955.2:n.-22-72A>G | |
| NM_001319198.2:c.3-72A>G | NP_001306127.1:n.3-72A>G | |
| NM_001319201.2:c.-22-72A>G | NP_001306130.1:n.-22-72A>G |