Linked Data
ClinVar Variation Id:
284678
ClinVar RCV Id:
RCV000344919
RCV001131782
RCV001081063
RCV001131779
RCV001131781
RCV001131778
RCV001131780
RCV001723871
dbSNP Id:
rs373429851
ExAC:
2:179514895 T / C
gnomAD v2:
2-179514895-T-C
gnomAD v3:
2-178650168-T-C
gnomAD v4:
2-178650168-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178650168T>C , CM000664.2:g.178650168T>C | GRCh38 |
| NC_000002.11:g.179514895T>C , CM000664.1:g.179514895T>C | GRCh37 |
| NC_000002.10:g.179223140T>C | NCBI36 |
| NG_011618.3:g.185635A>G , LRG_391:g.185635A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.32511A>G | ENSP00000343764.6:p.Pro10837= | |
| ENST00000342175.11:c.13859-7851A>G | ENSP00000340554.6:n.13859-7851A>G | |
| ENST00000359218.10:c.13658-7851A>G | ENSP00000352154.5:n.13658-7851A>G | |
| ENST00000342175.10:c.13859-7851A>G | ENSP00000340554.6:n.13859-7851A>G | |
| ENST00000342992.10:c.32511A>G | ENSP00000343764.6:p.Pro10837= | |
| ENST00000359218.9:c.13658-7851A>G | ENSP00000352154.5:n.13658-7851A>G | |
| ENST00000414766.5:c.2441-7851A>G | ENSP00000401501.1:n.2441-7851A>G | |
| ENST00000426232.5:c.334A>G | ||
| ENST00000446966.1:c.330A>G | ENSP00000408004.1:p.Pro110= | |
| ENST00000460472.6:c.13283-7851A>G | ENSP00000434586.1:n.13283-7851A>G | |
| ENST00000589042.5:c.39813A>G MANE Select | ENSP00000467141.1:p.Pro13271= | |
| ENST00000591111.5:c.35292A>G | ENSP00000465570.1:p.Pro11764= | |
| ENST00000615779.4:c.35292A>G | ENSP00000483597.1:p.Pro11764= | |
| NM_001256850.1:c.35292A>G | NP_001243779.1:p.Pro11764= | |
| NM_001267550.2:c.39813A>G MANE Select | NP_001254479.2:p.Pro13271= | |
| NM_003319.4:c.13283-7851A>G | NP_003310.4:n.13283-7851A>G | |
| NM_133378.4:c.32511A>G | NP_596869.4:p.Pro10837= | |
| NM_133432.3:c.13658-7851A>G | NP_597676.3:n.13658-7851A>G | |
| NM_133437.4:c.13859-7851A>G | NP_597681.4:n.13859-7851A>G | |
| XM_011511729.1:c.38910A>G | XP_011510031.1:p.Pro12970= | |
| XM_011511730.1:c.13469-7851A>G | XP_011510032.1:n.13469-7851A>G | |
| XM_011511731.1:c.13328-7851A>G | XP_011510033.1:n.13328-7851A>G | |
| XM_017004819.1:c.38706A>G | XP_016860308.1:p.Pro12902= | |
| XM_017004820.1:c.34104A>G | XP_016860309.1:p.Pro11368= | |
| XM_017004821.1:c.34101A>G | XP_016860310.1:p.Pro11367= | |
| XM_017004822.1:c.31859-7851A>G | XP_016860311.1:n.31859-7851A>G | |
| XM_017004823.1:c.13424-7851A>G | XP_016860312.1:n.13424-7851A>G | |
| XM_024453094.1:c.34254A>G | XP_024308862.1:p.Pro11418= | |
| XM_024453095.1:c.34251A>G | XP_024308863.1:p.Pro11417= | |
| XM_024453096.1:c.33684A>G | XP_024308864.1:p.Pro11228= | |
| XM_024453097.1:c.31691-7851A>G | XP_024308865.1:n.31691-7851A>G | |
| XM_024453098.1:c.31610-7851A>G | XP_024308866.1:n.31610-7851A>G | |
| XM_024453099.1:c.13424-7851A>G | XP_024308867.1:n.13424-7851A>G | |
| XM_024453100.1:c.2562A>G | XP_024308868.1:p.Pro854= |