Linked Data
ClinVar Variation Id:
868483
ClinVar RCV Id:
RCV001077393
dbSNP Id:
rs80357040
gnomAD v4:
17-43047678-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43047678T>G , CM000679.2:g.43047678T>G | GRCh38 |
| NC_000017.10:g.41199695T>G , CM000679.1:g.41199695T>G | GRCh37 |
| NC_000017.9:g.38453221T>G | NCBI36 |
| NG_005905.2:g.170306A>C , LRG_292:g.170306A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5429A>C | ENSP00000417241.2:p.Gln1810Pro | |
| ENST00000470026.6:c.5432A>C | ENSP00000419274.2:p.Gln1811Pro | |
| ENST00000473961.6:c.5306A>C | ENSP00000420201.2:p.Gln1769Pro | |
| ENST00000476777.6:c.5426A>C | ENSP00000417554.2:p.Gln1809Pro | |
| ENST00000477152.6:c.5354A>C | ENSP00000419988.2:p.Gln1785Pro | |
| ENST00000478531.6:c.2120A>C | ENSP00000420412.2:p.Gln707Pro | |
| ENST00000489037.2:c.5354A>C | ENSP00000420781.2:p.Gln1785Pro | |
| ENST00000493919.6:c.1982A>C | ENSP00000418819.2:p.Gln661Pro | |
| ENST00000494123.6:c.5432A>C | ENSP00000419103.2:p.Gln1811Pro | |
| ENST00000497488.2:c.4544A>C | ENSP00000418986.2:p.Gln1515Pro | |
| ENST00000618469.2:c.5432A>C | ENSP00000478114.2:p.Gln1811Pro | |
| ENST00000634433.2:c.5309A>C | ENSP00000489431.2:p.Gln1770Pro | |
| ENST00000644379.2:c.5498A>C | ENSP00000496570.2:p.Gln1833Pro | |
| ENST00000644555.2:c.1982A>C | ENSP00000494614.2:p.Gln661Pro | |
| ENST00000652672.2:c.5291A>C | ENSP00000498906.2:p.Gln1764Pro | |
| ENST00000484087.6:c.1994A>C | ENSP00000419481.2:p.Gln665Pro | |
| ENST00000700081.1:n.1315A>C | ||
| ENST00000700082.1:n.796A>C | ||
| ENST00000357654.9:c.5432A>C MANE Select | ENSP00000350283.3:p.Gln1811Pro | |
| ENST00000471181.7:c.5495A>C | ENSP00000418960.2:p.Gln1832Pro | |
| ENST00000644379.1:c.1819A>C | ||
| ENST00000352993.7:c.2006A>C | ENSP00000312236.5:p.Gln669Pro | |
| ENST00000357654.7:c.5432A>C | ENSP00000350283.3:p.Gln1811Pro | |
| ENST00000461221.5:c.*5215A>C | ENSP00000418548.1:n.*5215A>C | |
| ENST00000468300.5:c.2046A>C | ENSP00000417148.1:p.Ala682= | |
| ENST00000471181.6:c.5495A>C | ENSP00000418960.2:p.Gln1832Pro | |
| ENST00000491747.6:c.2120A>C | ENSP00000420705.2:p.Gln707Pro | |
| ENST00000493795.5:c.5291A>C | ENSP00000418775.1:p.Gln1764Pro | |
| ENST00000586385.5:c.362A>C | ENSP00000465818.1:p.Gln121Pro | |
| ENST00000591534.5:c.905A>C | ENSP00000467329.1:p.Gln302Pro | |
| ENST00000591849.5:c.131A>C | ENSP00000465347.1:p.Gln44Pro | |
| NM_007294.3:c.5432A>C , LRG_292t1:c.5432A>C | NP_009225.1:p.Gln1811Pro | |
| NM_007297.3:c.5291A>C | NP_009228.2:p.Gln1764Pro | |
| NM_007298.3:c.2120A>C | NP_009229.2:p.Gln707Pro | |
| NM_007299.3:c.2046A>C | NP_009230.2:p.Ala682= | |
| NM_007300.3:c.5495A>C | NP_009231.2:p.Gln1832Pro | |
| NR_027676.1:n.5568A>C | ||
| NM_007294.4:c.5432A>C MANE Select | NP_009225.1:p.Gln1811Pro | |
| NM_007297.4:c.5291A>C | NP_009228.2:p.Gln1764Pro | |
| NM_007299.4:c.2046A>C | NP_009230.2:p.Ala682= | |
| NM_007300.4:c.5495A>C | NP_009231.2:p.Gln1832Pro | |
| NR_027676.2:n.5609A>C |