Linked Data
ClinVar Variation Id:
55570
dbSNP Id:
rs80357241
ExAC:
17:41199711 G / C
gnomAD v2:
17-41199711-G-C
gnomAD v3:
17-43047694-G-C
gnomAD v4:
17-43047694-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43047694G>C , CM000679.2:g.43047694G>C | GRCh38 |
| NC_000017.10:g.41199711G>C , CM000679.1:g.41199711G>C | GRCh37 |
| NC_000017.9:g.38453237G>C | NCBI36 |
| NG_005905.2:g.170290C>G , LRG_292:g.170290C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5413C>G | ENSP00000417241.2:p.Pro1805Ala | |
| ENST00000470026.6:c.5416C>G | ENSP00000419274.2:p.Pro1806Ala | |
| ENST00000473961.6:c.5290C>G | ENSP00000420201.2:p.Pro1764Ala | |
| ENST00000476777.6:c.5410C>G | ENSP00000417554.2:p.Pro1804Ala | |
| ENST00000477152.6:c.5338C>G | ENSP00000419988.2:p.Pro1780Ala | |
| ENST00000478531.6:c.2104C>G | ENSP00000420412.2:p.Pro702Ala | |
| ENST00000489037.2:c.5338C>G | ENSP00000420781.2:p.Pro1780Ala | |
| ENST00000493919.6:c.1966C>G | ENSP00000418819.2:p.Pro656Ala | |
| ENST00000494123.6:c.5416C>G | ENSP00000419103.2:p.Pro1806Ala | |
| ENST00000497488.2:c.4528C>G | ENSP00000418986.2:p.Pro1510Ala | |
| ENST00000618469.2:c.5416C>G | ENSP00000478114.2:p.Pro1806Ala | |
| ENST00000634433.2:c.5293C>G | ENSP00000489431.2:p.Pro1765Ala | |
| ENST00000644379.2:c.5482C>G | ENSP00000496570.2:p.Pro1828Ala | |
| ENST00000644555.2:c.1966C>G | ENSP00000494614.2:p.Pro656Ala | |
| ENST00000652672.2:c.5275C>G | ENSP00000498906.2:p.Pro1759Ala | |
| ENST00000484087.6:c.1978C>G | ENSP00000419481.2:p.Pro660Ala | |
| ENST00000700081.1:n.1299C>G | ||
| ENST00000700082.1:n.780C>G | ||
| ENST00000357654.9:c.5416C>G MANE Select | ENSP00000350283.3:p.Pro1806Ala | |
| ENST00000471181.7:c.5479C>G | ENSP00000418960.2:p.Pro1827Ala | |
| ENST00000644379.1:c.1803C>G | ||
| ENST00000352993.7:c.1990C>G | ENSP00000312236.5:p.Pro664Ala | |
| ENST00000357654.7:c.5416C>G | ENSP00000350283.3:p.Pro1806Ala | |
| ENST00000461221.5:c.*5199C>G | ENSP00000418548.1:n.*5199C>G | |
| ENST00000468300.5:c.2030C>G | ENSP00000417148.1:p.Pro677Arg | |
| ENST00000471181.6:c.5479C>G | ENSP00000418960.2:p.Pro1827Ala | |
| ENST00000491747.6:c.2104C>G | ENSP00000420705.2:p.Pro702Ala | |
| ENST00000493795.5:c.5275C>G | ENSP00000418775.1:p.Pro1759Ala | |
| ENST00000586385.5:c.346C>G | ENSP00000465818.1:p.Pro116Ala | |
| ENST00000591534.5:c.889C>G | ENSP00000467329.1:p.Pro297Ala | |
| ENST00000591849.5:c.115C>G | ENSP00000465347.1:p.Pro39Ala | |
| NM_007294.3:c.5416C>G , LRG_292t1:c.5416C>G | NP_009225.1:p.Pro1806Ala | |
| NM_007297.3:c.5275C>G | NP_009228.2:p.Pro1759Ala | |
| NM_007298.3:c.2104C>G | NP_009229.2:p.Pro702Ala | |
| NM_007299.3:c.2030C>G | NP_009230.2:p.Pro677Arg | |
| NM_007300.3:c.5479C>G | NP_009231.2:p.Pro1827Ala | |
| NR_027676.1:n.5552C>G | ||
| NM_007294.4:c.5416C>G MANE Select | NP_009225.1:p.Pro1806Ala | |
| NM_007297.4:c.5275C>G | NP_009228.2:p.Pro1759Ala | |
| NM_007299.4:c.2030C>G | NP_009230.2:p.Pro677Arg | |
| NM_007300.4:c.5479C>G | NP_009231.2:p.Pro1827Ala | |
| NR_027676.2:n.5593C>G |