ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013667 (NFE)
Genomes Max Group AF
0.00004764 (NFE)
Exomes Max Group AF
0.00013882 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75960240A>G , CM000679.2:g.75960240A>G | GRCh38 |
| NC_000017.10:g.73956321A>G , CM000679.1:g.73956321A>G | GRCh37 |
| NC_000017.9:g.71467916A>G | NCBI36 |
| NG_008190.1:g.24124T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301608.9:c.431-2674T>C | ENSP00000301608.4:n.431-2674T>C | |
| ENST00000293217.10:c.405T>C MANE Select | ENSP00000293217.4:p.Thr135= | |
| ENST00000293217.9:c.405T>C | ENSP00000293217.4:p.Thr135= | |
| ENST00000301608.8:c.431-2674T>C | ENSP00000301608.4:n.431-2674T>C | |
| ENST00000572047.5:c.579T>C | ENSP00000459936.1:n.579T>C | |
| ENST00000573078.5:c.566T>C | ENSP00000458325.1:p.Leu189Pro | |
| ENST00000588176.5:c.431-4293T>C | ENSP00000466210.1:n.431-4293T>C | |
| ENST00000589301.1:c.*228-2674T>C | ENSP00000468435.1:n.*228-2674T>C | |
| ENST00000591857.5:n.423T>C | ||
| NM_001185039.1:c.291T>C | NP_001171968.1:p.Thr97= | |
| NM_004035.6:c.405T>C | NP_004026.2:p.Thr135= | |
| NM_007292.5:c.431-2674T>C | NP_009223.2:n.431-2674T>C | |
| XM_011524868.1:c.201T>C | XP_011523170.1:p.Thr67= | |
| XM_011524869.1:c.23-2674T>C | XP_011523171.1:n.23-2674T>C | |
| XM_011524868.3:c.201T>C | XP_011523170.1:p.Thr67= | |
| XM_011524869.3:c.23-2674T>C | XP_011523171.1:n.23-2674T>C | |
| NM_004035.7:c.405T>C MANE Select | NP_004026.2:p.Thr135= | |
| NM_001185039.2:c.291T>C | NP_001171968.1:p.Thr97= | |
| NM_007292.6:c.431-2674T>C | NP_009223.2:n.431-2674T>C |