Linked Data
ClinVar Variation Id:
100909
dbSNP Id:
rs587777175
ExAC:
3:100447603 C / T
gnomAD v2:
3-100447603-C-T
gnomAD v3:
3-100728759-C-T
gnomAD v4:
3-100728759-C-T
PubMed:
PMID:23479643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.100728759C>T , CM000665.2:g.100728759C>T | GRCh38 |
| NC_000003.11:g.100447603C>T , CM000665.1:g.100447603C>T | GRCh37 |
| NC_000003.10:g.101930293C>T | NCBI36 |
| NG_027821.1:g.24470C>T | |
| NG_027821.2:g.24470C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240851.9:c.316C>T MANE Select | ENSP00000240851.4:p.Arg106Cys | |
| ENST00000418917.7:c.316C>T | ENSP00000397182.3:p.Arg106Cys | |
| ENST00000463568.6:c.316C>T | ENSP00000419504.2:p.Arg106Cys | |
| ENST00000479672.6:c.316C>T | ENSP00000419559.2:p.Arg106Cys | |
| ENST00000487505.6:c.316C>T | ENSP00000420797.2:p.Arg106Cys | |
| ENST00000490574.6:c.316C>T | ENSP00000419960.1:p.Arg106Cys | |
| ENST00000615993.2:c.316C>T | ENSP00000479269.2:p.Arg106Cys | |
| ENST00000620299.5:c.316C>T | ENSP00000479981.1:p.Arg106Cys | |
| ENST00000674615.1:c.316C>T | ENSP00000502734.1:p.Arg106Cys | |
| ENST00000674645.1:c.316C>T | ENSP00000501892.1:p.Arg106Cys | |
| ENST00000674699.1:c.316C>T | ENSP00000502175.1:p.Arg106Cys | |
| ENST00000674758.1:c.316C>T | ENSP00000502502.1:p.Arg106Cys | |
| ENST00000674798.1:n.652C>T | ||
| ENST00000675011.1:c.316C>T | ENSP00000501745.1:p.Arg106Cys | |
| ENST00000675047.1:c.316C>T | ENSP00000502497.1:p.Arg106Cys | |
| ENST00000675243.1:c.316C>T | ENSP00000502592.1:p.Arg106Cys | |
| ENST00000675246.1:c.316C>T | ENSP00000501620.1:p.Arg106Cys | |
| ENST00000675420.1:c.316C>T | ENSP00000502516.1:p.Arg106Cys | |
| ENST00000675499.1:c.316C>T | ENSP00000502450.1:p.Arg106Cys | |
| ENST00000675543.1:c.316C>T | ENSP00000502229.1:p.Arg106Cys | |
| ENST00000675553.1:c.316C>T | ENSP00000501815.1:p.Arg106Cys | |
| ENST00000675586.1:c.316C>T | ENSP00000502329.1:p.Arg106Cys | |
| ENST00000675591.1:c.316C>T | ENSP00000501641.1:p.Arg106Cys | |
| ENST00000675692.1:c.316C>T | ENSP00000502034.1:p.Arg106Cys | |
| ENST00000675890.1:c.316C>T | ENSP00000502537.1:p.Arg106Cys | |
| ENST00000675958.1:c.316C>T | ENSP00000502025.1:p.Arg106Cys | |
| ENST00000676010.1:n.641C>T | ||
| ENST00000676054.1:c.316C>T | ENSP00000502051.1:p.Arg106Cys | |
| ENST00000676111.1:c.316C>T | ENSP00000502139.1:p.Arg106Cys | |
| ENST00000676276.1:c.316C>T | ENSP00000502372.1:p.Arg106Cys | |
| ENST00000676308.1:c.316C>T | ENSP00000502697.1:p.Arg106Cys | |
| ENST00000676395.1:c.316C>T | ENSP00000502071.1:p.Arg106Cys | |
| ENST00000676431.1:c.316C>T | ENSP00000502698.1:p.Arg106Cys | |
| ENST00000676455.1:c.316C>T | ENSP00000502625.1:p.Arg106Cys | |
| ENST00000240851.8:c.316C>T | ENSP00000240851.4:p.Arg106Cys | |
| ENST00000418917.6:c.316C>T | ENSP00000397182.2:p.Arg106Cys | |
| ENST00000463568.5:c.316C>T | ENSP00000419504.1:p.Arg106Cys | |
| ENST00000476228.5:c.316C>T | ENSP00000417952.1:p.Arg106Cys | |
| ENST00000479672.5:c.316C>T | ENSP00000419559.1:p.Arg106Cys | |
| ENST00000487505.5:c.316C>T | ENSP00000420797.1:p.Arg106Cys | |
| ENST00000490574.5:c.316C>T | ENSP00000419960.1:p.Arg106Cys | |
| ENST00000612059.4:c.316C>T | ENSP00000477562.1:p.Arg106Cys | |
| ENST00000615993.1:c.316C>T | ENSP00000479269.1:p.Arg106Cys | |
| ENST00000620299.4:c.316C>T | ENSP00000479981.1:p.Arg106Cys | |
| NM_001007565.2:c.316C>T | NP_001007566.1:p.Arg106Cys | |
| NM_001195478.1:c.316C>T | NP_001182407.1:p.Arg106Cys | |
| NM_001195479.1:c.316C>T | NP_001182408.1:p.Arg106Cys | |
| NM_006070.5:c.316C>T | NP_006061.2:p.Arg106Cys | |
| XM_005247066.1:c.316C>T | XP_005247123.1:p.Arg106Cys | |
| XM_006713472.1:c.316C>T | XP_006713535.1:p.Arg106Cys | |
| XM_006713473.1:c.316C>T | XP_006713536.1:p.Arg106Cys | |
| XM_011512334.1:c.316C>T | XP_011510636.1:p.Arg106Cys | |
| XM_005247066.2:c.316C>T | XP_005247123.1:p.Arg106Cys | |
| XM_017005527.1:c.316C>T | XP_016861016.1:p.Arg106Cys | |
| NM_006070.6:c.316C>T MANE Select | NP_006061.2:p.Arg106Cys | |
| NM_001195478.2:c.316C>T | NP_001182407.1:p.Arg106Cys | |
| NM_001195479.2:c.316C>T | NP_001182408.1:p.Arg106Cys |