gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00324161 (AFR)
Genomes Max Group AF
0.00284438 (AFR)
Exomes Max Group AF
0.00337665 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.150614696T>C , CM000685.2:g.150614696T>C | GRCh38 |
| NC_000023.10:g.149783169T>C , CM000685.1:g.149783169T>C | GRCh37 |
| NC_000023.9:g.149533827T>C | NCBI36 |
| NG_008199.1:g.51123T>C , LRG_839:g.51123T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684910.1:c.136+18126T>C | ENSP00000509844.1:n.136+18126T>C | |
| ENST00000685439.1:c.-3-4342T>C | ENSP00000508454.1:n.-3-4342T>C | |
| ENST00000685944.1:c.339T>C | ENSP00000509266.1:p.Cys113= | |
| ENST00000687215.1:c.54T>C | ENSP00000509706.1:p.Cys18= | |
| ENST00000687365.1:n.394T>C | ||
| ENST00000688152.1:c.339T>C | ENSP00000509360.1:p.Cys113= | |
| ENST00000688403.1:c.-300-24247T>C | ENSP00000508944.1:n.-300-24247T>C | |
| ENST00000689314.1:c.384T>C | ENSP00000510607.1:p.Cys128= | |
| ENST00000689694.1:c.339T>C | ENSP00000508718.1:p.Cys113= | |
| ENST00000689810.1:c.339T>C | ENSP00000510635.1:p.Cys113= | |
| ENST00000690282.1:c.-300-24247T>C | ENSP00000509809.1:n.-300-24247T>C | |
| ENST00000690351.1:c.137-4342T>C | ENSP00000509728.1:n.137-4342T>C | |
| ENST00000691232.1:c.-3-4342T>C | ENSP00000509675.1:n.-3-4342T>C | |
| ENST00000691686.1:c.339T>C | ENSP00000509784.1:p.Cys113= | |
| ENST00000691851.1:c.339T>C | ENSP00000510106.1:p.Cys113= | |
| ENST00000692015.1:c.231+16010T>C | ENSP00000510634.1:n.231+16010T>C | |
| ENST00000692638.1:c.*88T>C | ENSP00000509412.1:n.*88T>C | |
| ENST00000692852.1:c.339T>C | ENSP00000510337.1:p.Cys113= | |
| ENST00000692915.1:c.*334T>C | ENSP00000508547.1:n.*334T>C | |
| ENST00000370396.7:c.339T>C MANE Select | ENSP00000359423.3:p.Cys113= | |
| ENST00000306167.11:n.260-4392T>C | ||
| ENST00000370396.6:c.339T>C | ENSP00000359423.2:p.Cys113= | |
| ENST00000424519.1:c.231+16010T>C | ENSP00000400699.1:n.231+16010T>C | |
| ENST00000490530.1:n.278T>C | ||
| NM_000252.2:c.339T>C , LRG_839t1:c.339T>C | NP_000243.1:p.Cys113= | |
| XM_005274687.2:c.339T>C | XP_005274744.1:p.Cys113= | |
| XM_011531170.1:c.405T>C | XP_011529472.1:p.Cys135= | |
| XM_011531171.1:c.384T>C | XP_011529473.1:p.Cys128= | |
| XM_011531172.1:c.384T>C | XP_011529474.1:p.Cys128= | |
| XM_011531173.1:c.339T>C | XP_011529475.1:p.Cys113= | |
| XM_011531173.2:c.339T>C | XP_011529475.1:p.Cys113= | |
| XM_017029547.1:c.384T>C | XP_016885036.1:p.Cys128= | |
| XM_017029548.1:c.384T>C | XP_016885037.1:p.Cys128= | |
| XM_017029549.1:c.339T>C | XP_016885038.1:p.Cys113= | |
| XM_017029550.1:c.232-4342T>C | XP_016885039.1:n.232-4342T>C | |
| NM_000252.3:c.339T>C MANE Select | NP_000243.1:p.Cys113= | |
| NM_001376906.1:c.339T>C | NP_001363835.1:p.Cys113= | |
| NM_001376907.1:c.232-4342T>C | NP_001363836.1:n.232-4342T>C | |
| NM_001376908.1:c.339T>C | NP_001363837.1:p.Cys113= |