Linked Data
ClinVar Variation Id:
55478
dbSNP Id:
rs397509244
ExAC:
17:41209101 G / C
gnomAD v2:
17-41209101-G-C
PubMed:
PMID:12497638
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43057084G>C , CM000679.2:g.43057084G>C | GRCh38 |
| NC_000017.10:g.41209101G>C , CM000679.1:g.41209101G>C | GRCh37 |
| NC_000017.9:g.38462627G>C | NCBI36 |
| NG_005905.2:g.160900C>G , LRG_292:g.160900C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5242C>G | ENSP00000417241.2:p.Pro1748Ala | |
| ENST00000470026.6:c.5245C>G | ENSP00000419274.2:p.Pro1749Ala | |
| ENST00000473961.6:c.5119C>G | ENSP00000420201.2:p.Pro1707Ala | |
| ENST00000476777.6:c.5239C>G | ENSP00000417554.2:p.Pro1747Ala | |
| ENST00000477152.6:c.5167C>G | ENSP00000419988.2:p.Pro1723Ala | |
| ENST00000478531.6:c.1933C>G | ENSP00000420412.2:p.Pro645Ala | |
| ENST00000489037.2:c.5167C>G | ENSP00000420781.2:p.Pro1723Ala | |
| ENST00000493919.6:c.1795C>G | ENSP00000418819.2:p.Pro599Ala | |
| ENST00000494123.6:c.5245C>G | ENSP00000419103.2:p.Pro1749Ala | |
| ENST00000497488.2:c.4357C>G | ENSP00000418986.2:p.Pro1453Ala | |
| ENST00000618469.2:c.5245C>G | ENSP00000478114.2:p.Pro1749Ala | |
| ENST00000634433.2:c.5122C>G | ENSP00000489431.2:p.Pro1708Ala | |
| ENST00000644379.2:c.5311C>G | ENSP00000496570.2:p.Pro1771Ala | |
| ENST00000644555.2:c.1795C>G | ENSP00000494614.2:p.Pro599Ala | |
| ENST00000652672.2:c.5104C>G | ENSP00000498906.2:p.Pro1702Ala | |
| ENST00000484087.6:c.1807C>G | ENSP00000419481.2:p.Pro603Ala | |
| ENST00000357654.9:c.5245C>G MANE Select | ENSP00000350283.3:p.Pro1749Ala | |
| ENST00000471181.7:c.5308C>G | ENSP00000418960.2:p.Pro1770Ala | |
| ENST00000644379.1:c.1632C>G | ||
| ENST00000352993.7:c.1819C>G | ENSP00000312236.5:p.Pro607Ala | |
| ENST00000357654.7:c.5245C>G | ENSP00000350283.3:p.Pro1749Ala | |
| ENST00000461221.5:c.*5028C>G | ENSP00000418548.1:n.*5028C>G | |
| ENST00000468300.5:c.1933C>G | ENSP00000417148.1:p.Pro645Ala | |
| ENST00000471181.6:c.5308C>G | ENSP00000418960.2:p.Pro1770Ala | |
| ENST00000491747.6:c.1933C>G | ENSP00000420705.2:p.Pro645Ala | |
| ENST00000493795.5:c.5104C>G | ENSP00000418775.1:p.Pro1702Ala | |
| ENST00000586385.5:c.175C>G | ENSP00000465818.1:p.Pro59Ala | |
| ENST00000591534.5:c.718C>G | ENSP00000467329.1:p.Pro240Ala | |
| ENST00000591849.5:c.-98-6894C>G | ENSP00000465347.1:n.-98-6894C>G | |
| NM_007294.3:c.5245C>G , LRG_292t1:c.5245C>G | NP_009225.1:p.Pro1749Ala | |
| NM_007297.3:c.5104C>G | NP_009228.2:p.Pro1702Ala | |
| NM_007298.3:c.1933C>G | NP_009229.2:p.Pro645Ala | |
| NM_007299.3:c.1933C>G | NP_009230.2:p.Pro645Ala | |
| NM_007300.3:c.5308C>G | NP_009231.2:p.Pro1770Ala | |
| NR_027676.1:n.5381C>G | ||
| NM_007294.4:c.5245C>G MANE Select | NP_009225.1:p.Pro1749Ala | |
| NM_007297.4:c.5104C>G | NP_009228.2:p.Pro1702Ala | |
| NM_007299.4:c.1933C>G | NP_009230.2:p.Pro645Ala | |
| NM_007300.4:c.5308C>G | NP_009231.2:p.Pro1770Ala | |
| NR_027676.2:n.5422C>G |