Linked Data
ClinVar Variation Id:
158170
dbSNP Id:
rs568558844
ExAC:
9:123292332 G / A
gnomAD v2:
9-123292332-G-A
gnomAD v3:
9-120530054-G-A
gnomAD v4:
9-120530054-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120530054G>A , CM000671.2:g.120530054G>A | GRCh38 |
| NC_000009.11:g.123292332G>A , CM000671.1:g.123292332G>A | GRCh37 |
| NC_000009.10:g.122332153G>A | NCBI36 |
| NG_008999.1:g.55106C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360822.8:c.749C>T | ENSP00000354065.4:p.Pro250Leu | |
| ENST00000416449.6:c.749C>T | ENSP00000400395.2:p.Pro250Leu | |
| ENST00000472883.2:n.832C>T | ||
| ENST00000481266.2:c.663-1257C>T | ENSP00000417925.2:n.663-1257C>T | |
| ENST00000684780.1:n.808C>T | ||
| ENST00000685866.1:c.749C>T | ENSP00000509484.1:p.Pro250Leu | |
| ENST00000686376.1:c.749C>T | ENSP00000510021.1:p.Pro250Leu | |
| ENST00000686842.1:n.808C>T | ||
| ENST00000687024.1:c.89C>T | ENSP00000510504.1:p.Pro30Leu | |
| ENST00000687279.1:c.749C>T | ENSP00000508692.1:p.Pro250Leu | |
| ENST00000687311.1:n.808C>T | ||
| ENST00000687633.1:c.749C>T | ENSP00000510289.1:p.Pro250Leu | |
| ENST00000688923.1:n.808C>T | ||
| ENST00000689688.1:c.749C>T | ENSP00000510155.1:p.Pro250Leu | |
| ENST00000690474.1:n.794C>T | ||
| ENST00000690646.1:c.749C>T | ENSP00000510383.1:p.Pro250Leu | |
| ENST00000690814.1:c.746C>T | ENSP00000508792.1:p.Pro249Leu | |
| ENST00000691504.1:n.739C>T | ||
| ENST00000692155.1:c.749C>T | ENSP00000510290.1:p.Pro250Leu | |
| ENST00000692746.1:n.808C>T | ||
| ENST00000693137.1:n.796C>T | ||
| ENST00000693386.1:c.749C>T | ENSP00000510003.1:p.Pro250Leu | |
| ENST00000693433.1:n.739C>T | ||
| ENST00000693702.1:n.808C>T | ||
| ENST00000693714.1:n.792C>T | ||
| ENST00000693728.1:c.749C>T | ENSP00000510580.1:p.Pro250Leu | |
| ENST00000349780.9:c.749C>T MANE Select | ENSP00000343818.4:p.Pro250Leu | |
| ENST00000349780.8:c.749C>T | ENSP00000343818.4:p.Pro250Leu | |
| ENST00000360190.8:c.749C>T | ENSP00000353317.4:p.Pro250Leu | |
| ENST00000360822.7:c.749C>T | ENSP00000354065.4:p.Pro250Leu | |
| ENST00000472883.1:n.236-1257C>T | ||
| ENST00000473282.6:c.746C>T | ENSP00000419265.1:p.Pro249Leu | |
| ENST00000480112.5:c.746C>T | ENSP00000418418.1:p.Pro249Leu | |
| ENST00000481266.1:c.749C>T | ENSP00000417925.1:p.Pro250Leu | |
| ENST00000482047.1:c.11C>T | ENSP00000419640.1:p.Pro4Leu | |
| ENST00000483412.5:n.153C>T | ||
| NM_001011649.2:c.749C>T | NP_001011649.1:p.Pro250Leu | |
| NM_001272039.1:c.749C>T | NP_001258968.1:p.Pro250Leu | |
| NM_018249.5:c.749C>T | NP_060719.4:p.Pro250Leu | |
| NR_073554.1:n.941C>T | ||
| NR_073555.1:n.941C>T | ||
| NR_073556.1:n.938C>T | ||
| NR_073557.1:n.941C>T | ||
| NR_073558.1:n.938C>T | ||
| XM_006717182.1:c.749C>T | XP_006717245.1:p.Pro250Leu | |
| XM_006717185.1:c.749C>T | XP_006717248.1:p.Pro250Leu | |
| XM_011518860.1:c.749C>T | XP_011517162.1:p.Pro250Leu | |
| XM_011518861.1:c.746C>T | XP_011517163.1:p.Pro249Leu | |
| XM_017014921.1:c.749C>T | XP_016870410.1:p.Pro250Leu | |
| XM_017014922.1:c.-9-1257C>T | XP_016870411.1:n.-9-1257C>T | |
| XM_017014923.1:c.749C>T | XP_016870412.1:p.Pro250Leu | |
| XR_001746351.1:n.930C>T | ||
| NM_018249.6:c.749C>T MANE Select | NP_060719.4:p.Pro250Leu | |
| NM_001011649.3:c.749C>T | NP_001011649.1:p.Pro250Leu | |
| NR_073554.2:n.938C>T | ||
| NR_073555.2:n.938C>T | ||
| NR_073556.2:n.935C>T | ||
| NR_073557.2:n.938C>T | ||
| NR_073558.2:n.935C>T | ||
| NM_001272039.2:c.749C>T | NP_001258968.1:p.Pro250Leu |