Linked Data
ClinVar Variation Id:
347246
ClinVar RCV Id:
RCV001723947
dbSNP Id:
rs11569017
ExAC:
4:110902111 A / T
gnomAD v2:
4-110902111-A-T
gnomAD v3:
4-109980955-A-T
gnomAD v4:
4-109980955-A-T
PubMed:
PMID:16574953
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109980955A>T , CM000666.2:g.109980955A>T | GRCh38 |
| NC_000004.11:g.110902111A>T , CM000666.1:g.110902111A>T | GRCh37 |
| NC_000004.10:g.111121560A>T | NCBI36 |
| NG_011441.1:g.73072A>T | |
| NG_011441.2:g.73072A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265171.10:c.2351A>T MANE Select | ENSP00000265171.5:p.Asp784Val | |
| ENST00000652245.1:c.2225A>T | ENSP00000498337.1:p.Asp742Val | |
| ENST00000265171.9:c.2351A>T | ENSP00000265171.5:p.Asp784Val | |
| ENST00000503392.1:c.2351A>T | ENSP00000421384.1:p.Asp784Val | |
| ENST00000509793.5:c.2225A>T | ENSP00000424316.1:p.Asp742Val | |
| ENST00000509996.1:n.279A>T | ||
| ENST00000511228.5:n.315A>T | ||
| NM_001178130.1:c.2351A>T | NP_001171601.1:p.Asp784Val | |
| NM_001178131.1:c.2225A>T | NP_001171602.1:p.Asp742Val | |
| NM_001963.4:c.2351A>T | NP_001954.2:p.Asp784Val | |
| XM_005262796.2:c.2351A>T | XP_005262853.1:p.Asp784Val | |
| XM_005262797.2:c.2225A>T | XP_005262854.1:p.Asp742Val | |
| XM_005262798.2:c.2351A>T | XP_005262855.1:p.Asp784Val | |
| XM_005262800.2:c.2351A>T | XP_005262857.1:p.Asp784Val | |
| XM_005262801.2:c.2351A>T | XP_005262858.1:p.Asp784Val | |
| XM_006714124.2:c.2351A>T | XP_006714187.1:p.Asp784Val | |
| XM_011531707.1:c.2240A>T | XP_011530009.1:p.Asp747Val | |
| XM_011531708.1:c.2351A>T | XP_011530010.1:p.Asp784Val | |
| XR_427532.2:n.2804A>T | ||
| XR_938699.1:n.2804A>T | ||
| NM_001178130.2:c.2351A>T | NP_001171601.1:p.Asp784Val | |
| NM_001178131.2:c.2225A>T | NP_001171602.1:p.Asp742Val | |
| NM_001357021.1:c.2225A>T | NP_001343950.1:p.Asp742Val | |
| NM_001963.5:c.2351A>T | NP_001954.2:p.Asp784Val | |
| XM_017007845.1:c.2375A>T | XP_016863334.1:p.Asp792Val | |
| XM_017007846.1:c.2375A>T | XP_016863335.1:p.Asp792Val | |
| XM_017007847.1:c.2375A>T | XP_016863336.1:p.Asp792Val | |
| XM_017007848.1:c.2249A>T | XP_016863337.1:p.Asp750Val | |
| XM_017007849.1:c.2375A>T | XP_016863338.1:p.Asp792Val | |
| XM_017007850.1:c.2375A>T | XP_016863339.1:p.Asp792Val | |
| XM_017007851.1:c.2375A>T | XP_016863340.1:p.Asp792Val | |
| XM_017007853.1:c.2375A>T | XP_016863342.1:p.Asp792Val | |
| XR_001741156.1:n.2828A>T | ||
| XR_001741157.1:n.2828A>T | ||
| NM_001178130.3:c.2351A>T | NP_001171601.1:p.Asp784Val | |
| NM_001178131.3:c.2225A>T | NP_001171602.1:p.Asp742Val | |
| NM_001357021.2:c.2225A>T | NP_001343950.1:p.Asp742Val | |
| NM_001963.6:c.2351A>T MANE Select | NP_001954.2:p.Asp784Val |