Linked Data
ClinVar Variation Id:
55443
dbSNP Id:
rs80357501
ExAC:
17:41215367 T / C
gnomAD v2:
17-41215367-T-C
gnomAD v4:
17-43063350-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43063350T>C , CM000679.2:g.43063350T>C | GRCh38 |
| NC_000017.10:g.41215367T>C , CM000679.1:g.41215367T>C | GRCh37 |
| NC_000017.9:g.38468893T>C | NCBI36 |
| NG_005905.2:g.154634A>G , LRG_292:g.154634A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5173A>G | ENSP00000417241.2:p.Arg1725Gly | |
| ENST00000470026.6:c.5176A>G | ENSP00000419274.2:p.Arg1726Gly | |
| ENST00000473961.6:c.5050A>G | ENSP00000420201.2:p.Arg1684Gly | |
| ENST00000476777.6:c.5170A>G | ENSP00000417554.2:p.Arg1724Gly | |
| ENST00000477152.6:c.5098A>G | ENSP00000419988.2:p.Arg1700Gly | |
| ENST00000478531.6:c.1864A>G | ENSP00000420412.2:p.Arg622Gly | |
| ENST00000489037.2:c.5098A>G | ENSP00000420781.2:p.Arg1700Gly | |
| ENST00000493919.6:c.1726A>G | ENSP00000418819.2:p.Arg576Gly | |
| ENST00000494123.6:c.5176A>G | ENSP00000419103.2:p.Arg1726Gly | |
| ENST00000497488.2:c.4288A>G | ENSP00000418986.2:p.Arg1430Gly | |
| ENST00000618469.2:c.5176A>G | ENSP00000478114.2:p.Arg1726Gly | |
| ENST00000634433.2:c.5053A>G | ENSP00000489431.2:p.Arg1685Gly | |
| ENST00000644379.2:c.5242A>G | ENSP00000496570.2:p.Arg1748Gly | |
| ENST00000644555.2:c.1726A>G | ENSP00000494614.2:p.Arg576Gly | |
| ENST00000652672.2:c.5035A>G | ENSP00000498906.2:p.Arg1679Gly | |
| ENST00000484087.6:c.1738A>G | ENSP00000419481.2:p.Arg580Gly | |
| ENST00000357654.9:c.5176A>G MANE Select | ENSP00000350283.3:p.Arg1726Gly | |
| ENST00000471181.7:c.5239A>G | ENSP00000418960.2:p.Arg1747Gly | |
| ENST00000644379.1:c.1563A>G | ||
| ENST00000352993.7:c.1750A>G | ENSP00000312236.5:p.Arg584Gly | |
| ENST00000357654.7:c.5176A>G | ENSP00000350283.3:p.Arg1726Gly | |
| ENST00000461221.5:c.*4959A>G | ENSP00000418548.1:n.*4959A>G | |
| ENST00000468300.5:c.1864A>G | ENSP00000417148.1:p.Arg622Gly | |
| ENST00000471181.6:c.5239A>G | ENSP00000418960.2:p.Arg1747Gly | |
| ENST00000478531.5:c.1864A>G | ENSP00000420412.1:p.Arg622Gly | |
| ENST00000484087.5:c.1489A>G | ENSP00000419481.1:p.Arg497Gly | |
| ENST00000491747.6:c.1864A>G | ENSP00000420705.2:p.Arg622Gly | |
| ENST00000493795.5:c.5035A>G | ENSP00000418775.1:p.Arg1679Gly | |
| ENST00000586385.5:c.106A>G | ENSP00000465818.1:p.Arg36Gly | |
| ENST00000591534.5:c.649A>G | ENSP00000467329.1:p.Arg217Gly | |
| ENST00000591849.5:c.-98-13160A>G | ENSP00000465347.1:n.-98-13160A>G | |
| NM_007294.3:c.5176A>G , LRG_292t1:c.5176A>G | NP_009225.1:p.Arg1726Gly | |
| NM_007297.3:c.5035A>G | NP_009228.2:p.Arg1679Gly | |
| NM_007298.3:c.1864A>G | NP_009229.2:p.Arg622Gly | |
| NM_007299.3:c.1864A>G | NP_009230.2:p.Arg622Gly | |
| NM_007300.3:c.5239A>G | NP_009231.2:p.Arg1747Gly | |
| NR_027676.1:n.5312A>G | ||
| NM_007294.4:c.5176A>G MANE Select | NP_009225.1:p.Arg1726Gly | |
| NM_007297.4:c.5035A>G | NP_009228.2:p.Arg1679Gly | |
| NM_007299.4:c.1864A>G | NP_009230.2:p.Arg622Gly | |
| NM_007300.4:c.5239A>G | NP_009231.2:p.Arg1747Gly | |
| NR_027676.2:n.5353A>G |