Linked Data
ClinVar Variation Id:
21651
dbSNP Id:
rs4837768
ExAC:
9:123170733 C / G
gnomAD v2:
9-123170733-C-G
gnomAD v3:
9-120408455-C-G
gnomAD v4:
9-120408455-C-G
PubMed:
PMID:20301772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120408455C>G , CM000671.2:g.120408455C>G | GRCh38 |
| NC_000009.11:g.123170733C>G , CM000671.1:g.123170733C>G | GRCh37 |
| NC_000009.10:g.122210554C>G | NCBI36 |
| NG_008999.1:g.176705G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360822.8:c.3928G>C | ENSP00000354065.4:p.Val1310Leu | |
| ENST00000416449.6:c.4522G>C | ENSP00000400395.2:p.Val1508Leu | |
| ENST00000479584.2:n.2865G>C | ||
| ENST00000684780.1:n.4908G>C | ||
| ENST00000685866.1:c.*2445G>C | ENSP00000509484.1:n.*2445G>C | |
| ENST00000686376.1:c.4698G>C | ENSP00000510021.1:n.4698G>C | |
| ENST00000686842.1:n.8172G>C | ||
| ENST00000687279.1:c.4615G>C | ENSP00000508692.1:p.Val1539Leu | |
| ENST00000687311.1:n.4581G>C | ||
| ENST00000687633.1:c.4519G>C | ENSP00000510289.1:p.Val1507Leu | |
| ENST00000688512.1:c.226G>C | ENSP00000508546.1:p.Val76Leu | |
| ENST00000688923.1:n.3990G>C | ||
| ENST00000689012.1:n.1008G>C | ||
| ENST00000689688.1:c.4618G>C | ENSP00000510155.1:p.Val1540Leu | |
| ENST00000690646.1:c.4522G>C | ENSP00000510383.1:p.Val1508Leu | |
| ENST00000690814.1:c.*1794G>C | ENSP00000508792.1:n.*1794G>C | |
| ENST00000691504.1:n.4512G>C | ||
| ENST00000691551.1:c.787G>C | ||
| ENST00000692155.1:c.4698G>C | ENSP00000510290.1:n.4698G>C | |
| ENST00000692746.1:n.4525G>C | ||
| ENST00000693386.1:c.4463G>C | ENSP00000510003.1:n.4463G>C | |
| ENST00000693433.1:n.4512G>C | ||
| ENST00000693714.1:n.4565G>C | ||
| ENST00000693728.1:c.4522G>C | ENSP00000510580.1:p.Val1508Leu | |
| ENST00000349780.9:c.4618G>C MANE Select | ENSP00000343818.4:p.Val1540Leu | |
| ENST00000349780.8:c.4618G>C | ENSP00000343818.4:p.Val1540Leu | |
| ENST00000360190.8:c.4618G>C | ENSP00000353317.4:p.Val1540Leu | |
| ENST00000360822.7:c.3928G>C | ENSP00000354065.4:p.Val1310Leu | |
| ENST00000416449.5:c.2800G>C | ENSP00000400395.1:p.Val934Leu | |
| ENST00000425647.1:c.1648G>C | ENSP00000409941.1:p.Val550Leu | |
| ENST00000473282.6:c.*3442G>C | ENSP00000419265.1:n.*3442G>C | |
| ENST00000480112.5:c.*2445G>C | ENSP00000418418.1:n.*2445G>C | |
| ENST00000483412.5:n.3926G>C | ||
| NM_001011649.2:c.4618G>C | NP_001011649.1:p.Val1540Leu | |
| NM_001272039.1:c.3928G>C | NP_001258968.1:p.Val1310Leu | |
| NM_018249.5:c.4618G>C | NP_060719.4:p.Val1540Leu | |
| NR_073554.1:n.4887G>C | ||
| NR_073555.1:n.4810G>C | ||
| NR_073556.1:n.5017G>C | ||
| NR_073557.1:n.4890G>C | ||
| NR_073558.1:n.4887G>C | ||
| XM_006717182.1:c.4522G>C | XP_006717245.1:p.Val1508Leu | |
| XM_006717185.1:c.3931G>C | XP_006717248.1:p.Val1311Leu | |
| XM_011518860.1:c.4615G>C | XP_011517162.1:p.Val1539Leu | |
| XM_011518861.1:c.4615G>C | XP_011517163.1:p.Val1539Leu | |
| XM_017014921.1:c.4519G>C | XP_016870410.1:p.Val1507Leu | |
| XM_017014922.1:c.3784G>C | XP_016870411.1:p.Val1262Leu | |
| XM_017014923.1:c.3931G>C | XP_016870412.1:p.Val1311Leu | |
| XM_017014924.1:c.2413G>C | XP_016870413.1:p.Val805Leu | |
| NM_018249.6:c.4618G>C MANE Select | NP_060719.4:p.Val1540Leu | |
| NM_001011649.3:c.4618G>C | NP_001011649.1:p.Val1540Leu | |
| NR_073554.2:n.4884G>C | ||
| NR_073555.2:n.4807G>C | ||
| NR_073556.2:n.5014G>C | ||
| NR_073557.2:n.4887G>C | ||
| NR_073558.2:n.4884G>C | ||
| NM_001272039.2:c.3928G>C | NP_001258968.1:p.Val1310Leu |