gnomAD v4:
Joint Max Group AF
0.00000138 (NFE)
Exomes Max Group AF
0.00000192 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.98410626G>C , CM000672.2:g.98410626G>C | GRCh38 |
| NC_000010.10:g.100170383G>C , CM000672.1:g.100170383G>C | GRCh37 |
| NC_000010.9:g.100160373G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370575.5:c.147+313C>G MANE Select | ENSP00000359607.4:n.147+313C>G | |
| ENST00000370575.4:c.147+313C>G | ENSP00000359607.4:n.147+313C>G | |
| ENST00000483923.5:n.1036C>G | ||
| NM_032709.2:c.147+313C>G | NP_116098.2:n.147+313C>G | |
| XM_011540293.1:c.249+313C>G | XP_011538595.1:n.249+313C>G | |
| XM_011540294.1:c.249+313C>G | XP_011538596.1:n.249+313C>G | |
| XM_011540295.1:c.249+313C>G | XP_011538597.1:n.249+313C>G | |
| XM_011540296.1:c.249+313C>G | XP_011538598.1:n.249+313C>G | |
| XM_011540299.1:c.249+313C>G | XP_011538601.1:n.249+313C>G | |
| XM_011540300.1:c.249+313C>G | XP_011538602.1:n.249+313C>G | |
| XR_945839.1:n.2320+313C>G | ||
| XR_945840.1:n.2322+313C>G | ||
| XR_945841.1:n.2324+313C>G | ||
| XR_945842.1:n.2322+313C>G | ||
| XR_945843.1:n.2325+313C>G | ||
| XR_945844.1:n.2326+313C>G | ||
| XR_945845.1:n.2326+313C>G | ||
| XM_011540293.2:c.249+313C>G | XP_011538595.1:n.249+313C>G | |
| XM_017016835.1:c.147+313C>G | XP_016872324.1:n.147+313C>G | |
| XM_017016836.1:c.147+313C>G | XP_016872325.1:n.147+313C>G | |
| XM_017016837.1:c.147+313C>G | XP_016872326.1:n.147+313C>G | |
| XR_001747233.1:n.194+313C>G | ||
| XR_001747234.1:n.194+313C>G | ||
| XR_001747235.1:n.194+313C>G | ||
| XR_001747236.1:n.194+313C>G | ||
| XR_001747237.1:n.194+313C>G | ||
| XR_001747238.1:n.194+313C>G | ||
| XR_001747239.1:n.194+313C>G | ||
| XR_001747240.1:n.194+313C>G | ||
| NM_032709.3:c.147+313C>G MANE Select | NP_116098.2:n.147+313C>G |