ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00016293 (NFE)
Genomes Max Group AF
0.00007907 (NFE)
Exomes Max Group AF
0.00016401 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44414502C>T , CM000682.2:g.44414502C>T | GRCh38 |
| NC_000020.10:g.43043142C>T , CM000682.1:g.43043142C>T | GRCh37 |
| NC_000020.9:g.42476556C>T | NCBI36 |
| NG_009818.1:g.63702C>T , LRG_483:g.63702C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316673.9:c.427-5C>T MANE Select | ENSP00000315180.4:n.427-5C>T | |
| ENST00000316099.10:c.493-5C>T | ENSP00000312987.3:n.493-5C>T | |
| ENST00000619550.5:c.467-5C>T | ||
| ENST00000683148.1:n.469-5C>T | ||
| ENST00000683657.1:n.1617-5C>T | ||
| ENST00000316099.9:c.493-5C>T | ENSP00000312987.3:n.493-5C>T | |
| ENST00000316099.8:c.493-5C>T | ENSP00000312987.3:n.493-5C>T | |
| ENST00000316673.8:c.427-5C>T | ENSP00000315180.4:n.427-5C>T | |
| ENST00000372920.1:c.*260-5C>T | ENSP00000362011.1:n.*260-5C>T | |
| ENST00000415691.2:c.493-5C>T | ENSP00000412111.1:n.493-5C>T | |
| ENST00000443598.6:c.493-5C>T | ENSP00000410911.2:n.493-5C>T | |
| ENST00000457232.5:c.427-5C>T | ENSP00000396216.1:n.427-5C>T | |
| ENST00000609795.5:c.427-5C>T | ENSP00000476609.1:n.427-5C>T | |
| ENST00000619550.4:c.418-5C>T | ENSP00000481331.1:n.418-5C>T | |
| NM_000457.4:c.493-5C>T , LRG_483t2:c.493-5C>T | NP_000448.3:n.493-5C>T | |
| NM_001030003.2:c.427-5C>T | NP_001025174.1:n.427-5C>T | |
| NM_001030004.2:c.427-5C>T | NP_001025175.1:n.427-5C>T | |
| NM_001258355.1:c.472-5C>T | NP_001245284.1:n.472-5C>T | |
| NM_001287182.1:c.418-5C>T | NP_001274111.1:n.418-5C>T | |
| NM_001287183.1:c.418-5C>T , LRG_483t3:c.418-5C>T | NP_001274112.1:n.418-5C>T | |
| NM_001287184.1:c.418-5C>T | NP_001274113.1:n.418-5C>T | |
| NM_175914.4:c.427-5C>T , LRG_483t1:c.427-5C>T | NP_787110.2:n.427-5C>T | |
| NM_178849.2:c.493-5C>T | NP_849180.1:n.493-5C>T | |
| NM_178850.2:c.493-5C>T | NP_849181.1:n.493-5C>T | |
| XM_005260407.2:c.610-5C>T | XP_005260464.1:n.610-5C>T | |
| XM_011528797.1:c.541-5C>T | XP_011527099.1:n.541-5C>T | |
| XM_011528798.1:c.541-5C>T | XP_011527100.1:n.541-5C>T | |
| XM_005260407.4:c.610-5C>T | XP_005260464.1:n.610-5C>T | |
| NM_001030003.3:c.427-5C>T | NP_001025174.1:n.427-5C>T | |
| NM_001030004.3:c.427-5C>T | NP_001025175.1:n.427-5C>T | |
| NM_001258355.2:c.472-5C>T | NP_001245284.1:n.472-5C>T | |
| NM_001287182.2:c.418-5C>T | NP_001274111.1:n.418-5C>T | |
| NM_001287184.2:c.418-5C>T | NP_001274113.1:n.418-5C>T | |
| NM_178849.3:c.493-5C>T | NP_849180.1:n.493-5C>T | |
| NM_178850.3:c.493-5C>T | NP_849181.1:n.493-5C>T | |
| NM_000457.5:c.493-5C>T | NP_000448.3:n.493-5C>T | |
| NM_000457.6:c.493-5C>T | NP_000448.3:n.493-5C>T | |
| NM_001287183.2:c.418-5C>T | NP_001274112.1:n.418-5C>T | |
| NM_175914.5:c.427-5C>T MANE Select | NP_787110.2:n.427-5C>T |