gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00109544 (SAS)
Genomes Max Group AF
0.00054111 (SAS)
Exomes Max Group AF
0.00109283 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10074640G>C , CM000665.2:g.10074640G>C | GRCh38 |
| NC_000003.11:g.10116324G>C , CM000665.1:g.10116324G>C | GRCh37 |
| NC_000003.10:g.10091324G>C | NCBI36 |
| NG_007311.1:g.53212G>C , LRG_306:g.53212G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681997.1:n.1910G>C | ||
| ENST00000683263.1:n.1825G>C | ||
| ENST00000675286.1:c.2826G>C MANE Select | ENSP00000502379.1:p.Thr942= | |
| ENST00000676013.1:c.2715G>C | ENSP00000501999.1:p.Thr905= | |
| ENST00000287647.7:c.2826G>C | ENSP00000287647.3:p.Thr942= | |
| ENST00000383807.5:c.2826G>C | ENSP00000373318.1:p.Thr942= | |
| ENST00000419585.5:c.2826G>C | ENSP00000398754.1:p.Thr942= | |
| ENST00000421731.5:c.1325G>C | ||
| NM_001018115.1:c.2826G>C , LRG_306t1:c.2826G>C | NP_001018125.1:p.Thr942= | |
| NM_033084.3:c.2826G>C , LRG_306t2:c.2826G>C | NP_149075.2:p.Thr942= | |
| XM_005264946.2:c.2826G>C | XP_005265003.1:p.Thr942= | |
| XM_005264947.2:c.831G>C | XP_005265004.1:p.Thr277= | |
| XM_006713021.2:c.2826G>C | XP_006713084.1:p.Thr942= | |
| XM_006713023.2:c.2826G>C | XP_006713086.1:p.Thr942= | |
| XM_006713024.2:c.2826G>C | XP_006713087.1:p.Thr942= | |
| XM_011533479.1:c.2826G>C | XP_011531781.1:p.Thr942= | |
| XM_011533480.1:c.1677G>C | XP_011531782.1:p.Thr559= | |
| XR_940391.1:n.2837G>C | ||
| NM_001018115.2:c.2826G>C | NP_001018125.1:p.Thr942= | |
| NM_001319984.1:c.2826G>C | NP_001306913.1:p.Thr942= | |
| NM_033084.4:c.2826G>C | NP_149075.2:p.Thr942= | |
| NM_001018115.3:c.2826G>C MANE Select | NP_001018125.1:p.Thr942= | |
| NM_001319984.2:c.2826G>C | NP_001306913.1:p.Thr942= | |
| NM_001374253.1:c.2715G>C | NP_001361182.1:p.Thr905= | |
| NM_001374254.1:c.2826G>C | NP_001361183.1:p.Thr942= | |
| NM_033084.6:c.2826G>C | NP_149075.2:p.Thr942= |