Linked Data
ClinVar Variation Id:
183931
dbSNP Id:
rs761925468
ExAC:
17:41223155 G / C
gnomAD v2:
17-41223155-G-C
gnomAD v4:
17-43071138-G-C
PubMed:
PMID:23289006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43071138G>C , CM000679.2:g.43071138G>C | GRCh38 |
| NC_000017.10:g.41223155G>C , CM000679.1:g.41223155G>C | GRCh37 |
| NC_000017.9:g.38476681G>C | NCBI36 |
| NG_005905.2:g.146846C>G , LRG_292:g.146846C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4773C>G | ENSP00000417241.2:p.Asn1591Lys | |
| ENST00000470026.6:c.4776C>G | ENSP00000419274.2:p.Asn1592Lys | |
| ENST00000473961.6:c.4650C>G | ENSP00000420201.2:p.Asn1550Lys | |
| ENST00000476777.6:c.4770C>G | ENSP00000417554.2:p.Asn1590Lys | |
| ENST00000477152.6:c.4698C>G | ENSP00000419988.2:p.Asn1566Lys | |
| ENST00000478531.6:c.1464C>G | ENSP00000420412.2:p.Asn488Lys | |
| ENST00000489037.2:c.4698C>G | ENSP00000420781.2:p.Asn1566Lys | |
| ENST00000493919.6:c.1326C>G | ENSP00000418819.2:p.Asn442Lys | |
| ENST00000494123.6:c.4776C>G | ENSP00000419103.2:p.Asn1592Lys | |
| ENST00000497488.2:c.3888C>G | ENSP00000418986.2:p.Asn1296Lys | |
| ENST00000618469.2:c.4776C>G | ENSP00000478114.2:p.Asn1592Lys | |
| ENST00000634433.2:c.4653C>G | ENSP00000489431.2:p.Asn1551Lys | |
| ENST00000644379.2:c.4842C>G | ENSP00000496570.2:p.Asn1614Lys | |
| ENST00000644555.2:c.1326C>G | ENSP00000494614.2:p.Asn442Lys | |
| ENST00000652672.2:c.4635C>G | ENSP00000498906.2:p.Asn1545Lys | |
| ENST00000484087.6:c.1338C>G | ENSP00000419481.2:p.Asn446Lys | |
| ENST00000700182.1:c.1383C>G | ENSP00000514849.1:p.Asn461Lys | |
| ENST00000357654.9:c.4776C>G MANE Select | ENSP00000350283.3:p.Asn1592Lys | |
| ENST00000471181.7:c.4839C>G | ENSP00000418960.2:p.Asn1613Lys | |
| ENST00000644379.1:c.1163C>G | ||
| ENST00000352993.7:c.1350C>G | ENSP00000312236.5:p.Asn450Lys | |
| ENST00000357654.7:c.4776C>G | ENSP00000350283.3:p.Asn1592Lys | |
| ENST00000461221.5:c.*4559C>G | ENSP00000418548.1:n.*4559C>G | |
| ENST00000468300.5:c.1464C>G | ENSP00000417148.1:p.Asn488Lys | |
| ENST00000471181.6:c.4839C>G | ENSP00000418960.2:p.Asn1613Lys | |
| ENST00000478531.5:c.1464C>G | ENSP00000420412.1:p.Asn488Lys | |
| ENST00000484087.5:c.1089C>G | ENSP00000419481.1:p.Asn363Lys | |
| ENST00000491747.6:c.1464C>G | ENSP00000420705.2:p.Asn488Lys | |
| ENST00000493795.5:c.4635C>G | ENSP00000418775.1:p.Asn1545Lys | |
| ENST00000493919.5:c.1326C>G | ENSP00000418819.1:p.Asn442Lys | |
| ENST00000586385.5:c.5-7187C>G | ENSP00000465818.1:n.5-7187C>G | |
| ENST00000591534.5:c.249C>G | ENSP00000467329.1:p.Asn83Lys | |
| ENST00000591849.5:c.-98-20948C>G | ENSP00000465347.1:n.-98-20948C>G | |
| NM_007294.3:c.4776C>G , LRG_292t1:c.4776C>G | NP_009225.1:p.Asn1592Lys | |
| NM_007297.3:c.4635C>G | NP_009228.2:p.Asn1545Lys | |
| NM_007298.3:c.1464C>G | NP_009229.2:p.Asn488Lys | |
| NM_007299.3:c.1464C>G | NP_009230.2:p.Asn488Lys | |
| NM_007300.3:c.4839C>G | NP_009231.2:p.Asn1613Lys | |
| NR_027676.1:n.4912C>G | ||
| NM_007294.4:c.4776C>G MANE Select | NP_009225.1:p.Asn1592Lys | |
| NM_007297.4:c.4635C>G | NP_009228.2:p.Asn1545Lys | |
| NM_007299.4:c.1464C>G | NP_009230.2:p.Asn488Lys | |
| NM_007300.4:c.4839C>G | NP_009231.2:p.Asn1613Lys | |
| NR_027676.2:n.4953C>G |