gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08371658 (NFE)
Genomes Max Group AF
0.08371658 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122427190A>G , CM000666.2:g.122427190A>G | GRCh38 |
| NC_000004.11:g.123348345A>G , CM000666.1:g.123348345A>G | GRCh37 |
| NC_000004.10:g.123567795A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296513.7:c.1618-2436A>G MANE Select | ENSP00000296513.2:n.1618-2436A>G | |
| ENST00000296513.6:c.1618-2436A>G | ENSP00000296513.2:n.1618-2436A>G | |
| ENST00000388724.6:c.1585-2436A>G | ENSP00000373376.2:n.1585-2436A>G | |
| ENST00000388725.2:c.1564-2436A>G | ENSP00000373377.2:n.1564-2436A>G | |
| NM_001159285.1:c.1585-2436A>G | NP_001152757.1:n.1585-2436A>G | |
| NM_001159295.1:c.1564-2436A>G | NP_001152767.1:n.1564-2436A>G | |
| NM_139243.3:c.1618-2436A>G | NP_640336.1:n.1618-2436A>G | |
| XM_005262741.2:c.1618-2436A>G | XP_005262798.1:n.1618-2436A>G | |
| XM_005262743.2:c.1618-2436A>G | XP_005262800.1:n.1618-2436A>G | |
| XM_005262744.2:c.1585-2436A>G | XP_005262801.1:n.1585-2436A>G | |
| XM_005262745.2:c.1549-2436A>G | XP_005262802.1:n.1549-2436A>G | |
| XM_011531603.1:c.1618-2436A>G | XP_011529905.1:n.1618-2436A>G | |
| XM_005262743.3:c.1618-2436A>G | XP_005262800.1:n.1618-2436A>G | |
| XM_005262744.3:c.1585-2436A>G | XP_005262801.1:n.1585-2436A>G | |
| XM_005262745.3:c.1549-2436A>G | XP_005262802.1:n.1549-2436A>G | |
| XM_011531603.2:c.1618-2436A>G | XP_011529905.1:n.1618-2436A>G | |
| XM_024453888.1:c.1618-2436A>G | XP_024309656.1:n.1618-2436A>G | |
| XM_024453889.1:c.1585-2436A>G | XP_024309657.1:n.1585-2436A>G | |
| XM_024453890.1:c.1585-2436A>G | XP_024309658.1:n.1585-2436A>G | |
| NM_139243.4:c.1618-2436A>G MANE Select | NP_640336.1:n.1618-2436A>G | |
| NM_001159285.2:c.1585-2436A>G | NP_001152757.1:n.1585-2436A>G | |
| NM_001159295.2:c.1564-2436A>G | NP_001152767.1:n.1564-2436A>G |