Linked Data
ClinVar Variation Id:
178221
ClinVar RCV Id:
RCV000157561
RCV000154956
RCV000243216
RCV000852863
RCV001080889
RCV000724471
RCV001131898
RCV001798509
RCV001131899
RCV001132870
RCV001132871
RCV001132872
RCV004544426
dbSNP Id:
rs72650064
ExAC:
2:179516261 G / T
gnomAD v2:
2-179516261-G-T
gnomAD v3:
2-178651534-G-T
gnomAD v4:
2-178651534-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178651534G>T , CM000664.2:g.178651534G>T | GRCh38 |
| NC_000002.11:g.179516261G>T , CM000664.1:g.179516261G>T | GRCh37 |
| NC_000002.10:g.179224506G>T | NCBI36 |
| NG_011618.3:g.184269C>A , LRG_391:g.184269C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.32164C>A | ENSP00000343764.6:p.Pro10722Thr | |
| ENST00000342175.11:c.13859-9217C>A | ENSP00000340554.6:n.13859-9217C>A | |
| ENST00000359218.10:c.13658-9217C>A | ENSP00000352154.5:n.13658-9217C>A | |
| ENST00000342175.10:c.13859-9217C>A | ENSP00000340554.6:n.13859-9217C>A | |
| ENST00000342992.10:c.32164C>A | ENSP00000343764.6:p.Pro10722Thr | |
| ENST00000359218.9:c.13658-9217C>A | ENSP00000352154.5:n.13658-9217C>A | |
| ENST00000414766.5:c.2441-9217C>A | ENSP00000401501.1:n.2441-9217C>A | |
| ENST00000460472.6:c.13283-9217C>A | ENSP00000434586.1:n.13283-9217C>A | |
| ENST00000589042.5:c.39466C>A MANE Select | ENSP00000467141.1:p.Pro13156Thr | |
| ENST00000591111.5:c.34945C>A | ENSP00000465570.1:p.Pro11649Thr | |
| ENST00000615779.4:c.34945C>A | ENSP00000483597.1:p.Pro11649Thr | |
| NM_001256850.1:c.34945C>A | NP_001243779.1:p.Pro11649Thr | |
| NM_001267550.2:c.39466C>A MANE Select | NP_001254479.2:p.Pro13156Thr | |
| NM_003319.4:c.13283-9217C>A | NP_003310.4:n.13283-9217C>A | |
| NM_133378.4:c.32164C>A | NP_596869.4:p.Pro10722Thr | |
| NM_133432.3:c.13658-9217C>A | NP_597676.3:n.13658-9217C>A | |
| NM_133437.4:c.13859-9217C>A | NP_597681.4:n.13859-9217C>A | |
| XM_011511729.1:c.38563C>A | XP_011510031.1:p.Pro12855Thr | |
| XM_011511730.1:c.13469-9217C>A | XP_011510032.1:n.13469-9217C>A | |
| XM_011511731.1:c.13328-9217C>A | XP_011510033.1:n.13328-9217C>A | |
| XM_017004819.1:c.38359C>A | XP_016860308.1:p.Pro12787Thr | |
| XM_017004820.1:c.33757C>A | XP_016860309.1:p.Pro11253Thr | |
| XM_017004821.1:c.33754C>A | XP_016860310.1:p.Pro11252Thr | |
| XM_017004822.1:c.31859-9217C>A | XP_016860311.1:n.31859-9217C>A | |
| XM_017004823.1:c.13424-9217C>A | XP_016860312.1:n.13424-9217C>A | |
| XM_024453094.1:c.33907C>A | XP_024308862.1:p.Pro11303Thr | |
| XM_024453095.1:c.33904C>A | XP_024308863.1:p.Pro11302Thr | |
| XM_024453096.1:c.33337C>A | XP_024308864.1:p.Pro11113Thr | |
| XM_024453097.1:c.31691-9217C>A | XP_024308865.1:n.31691-9217C>A | |
| XM_024453098.1:c.31610-9217C>A | XP_024308866.1:n.31610-9217C>A | |
| XM_024453099.1:c.13424-9217C>A | XP_024308867.1:n.13424-9217C>A | |
| XM_024453100.1:c.2215C>A | XP_024308868.1:p.Pro739Thr |