Linked Data
ClinVar Variation Id:
37614
dbSNP Id:
rs80356862
ExAC:
17:41223063 G / C
gnomAD v2:
17-41223063-G-C
gnomAD v4:
17-43071046-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43071046G>C , CM000679.2:g.43071046G>C | GRCh38 |
| NC_000017.10:g.41223063G>C , CM000679.1:g.41223063G>C | GRCh37 |
| NC_000017.9:g.38476589G>C | NCBI36 |
| NG_005905.2:g.146938C>G , LRG_292:g.146938C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4865C>G | ENSP00000417241.2:p.Ala1622Gly | |
| ENST00000470026.6:c.4868C>G | ENSP00000419274.2:p.Ala1623Gly | |
| ENST00000473961.6:c.4742C>G | ENSP00000420201.2:p.Ala1581Gly | |
| ENST00000476777.6:c.4862C>G | ENSP00000417554.2:p.Ala1621Gly | |
| ENST00000477152.6:c.4790C>G | ENSP00000419988.2:p.Ala1597Gly | |
| ENST00000478531.6:c.1556C>G | ENSP00000420412.2:p.Ala519Gly | |
| ENST00000489037.2:c.4790C>G | ENSP00000420781.2:p.Ala1597Gly | |
| ENST00000493919.6:c.1418C>G | ENSP00000418819.2:p.Ala473Gly | |
| ENST00000494123.6:c.4868C>G | ENSP00000419103.2:p.Ala1623Gly | |
| ENST00000497488.2:c.3980C>G | ENSP00000418986.2:p.Ala1327Gly | |
| ENST00000618469.2:c.4868C>G | ENSP00000478114.2:p.Ala1623Gly | |
| ENST00000634433.2:c.4745C>G | ENSP00000489431.2:p.Ala1582Gly | |
| ENST00000644379.2:c.4934C>G | ENSP00000496570.2:p.Ala1645Gly | |
| ENST00000644555.2:c.1418C>G | ENSP00000494614.2:p.Ala473Gly | |
| ENST00000652672.2:c.4727C>G | ENSP00000498906.2:p.Ala1576Gly | |
| ENST00000484087.6:c.1430C>G | ENSP00000419481.2:p.Ala477Gly | |
| ENST00000700182.1:c.1475C>G | ENSP00000514849.1:p.Ala492Gly | |
| ENST00000357654.9:c.4868C>G MANE Select | ENSP00000350283.3:p.Ala1623Gly | |
| ENST00000471181.7:c.4931C>G | ENSP00000418960.2:p.Ala1644Gly | |
| ENST00000644379.1:c.1255C>G | ||
| ENST00000352993.7:c.1442C>G | ENSP00000312236.5:p.Ala481Gly | |
| ENST00000357654.7:c.4868C>G | ENSP00000350283.3:p.Ala1623Gly | |
| ENST00000461221.5:c.*4651C>G | ENSP00000418548.1:n.*4651C>G | |
| ENST00000468300.5:c.1556C>G | ENSP00000417148.1:p.Ala519Gly | |
| ENST00000471181.6:c.4931C>G | ENSP00000418960.2:p.Ala1644Gly | |
| ENST00000472490.1:n.21C>G | ||
| ENST00000478531.5:c.1556C>G | ENSP00000420412.1:p.Ala519Gly | |
| ENST00000484087.5:c.1181C>G | ENSP00000419481.1:p.Ala394Gly | |
| ENST00000491747.6:c.1556C>G | ENSP00000420705.2:p.Ala519Gly | |
| ENST00000493795.5:c.4727C>G | ENSP00000418775.1:p.Ala1576Gly | |
| ENST00000493919.5:c.1418C>G | ENSP00000418819.1:p.Ala473Gly | |
| ENST00000586385.5:c.5-7095C>G | ENSP00000465818.1:n.5-7095C>G | |
| ENST00000591534.5:c.341C>G | ENSP00000467329.1:p.Ala114Gly | |
| ENST00000591849.5:c.-98-20856C>G | ENSP00000465347.1:n.-98-20856C>G | |
| NM_007294.3:c.4868C>G , LRG_292t1:c.4868C>G | NP_009225.1:p.Ala1623Gly | |
| NM_007297.3:c.4727C>G | NP_009228.2:p.Ala1576Gly | |
| NM_007298.3:c.1556C>G | NP_009229.2:p.Ala519Gly | |
| NM_007299.3:c.1556C>G | NP_009230.2:p.Ala519Gly | |
| NM_007300.3:c.4931C>G | NP_009231.2:p.Ala1644Gly | |
| NR_027676.1:n.5004C>G | ||
| NM_007294.4:c.4868C>G MANE Select | NP_009225.1:p.Ala1623Gly | |
| NM_007297.4:c.4727C>G | NP_009228.2:p.Ala1576Gly | |
| NM_007299.4:c.1556C>G | NP_009230.2:p.Ala519Gly | |
| NM_007300.4:c.4931C>G | NP_009231.2:p.Ala1644Gly | |
| NR_027676.2:n.5045C>G |