Linked Data
ClinVar Variation Id:
37571
dbSNP Id:
rs80356986
ExAC:
17:41243019 G / C
gnomAD v2:
17-41243019-G-C
gnomAD v3:
17-43091002-G-C
gnomAD v4:
17-43091002-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091002G>C , CM000679.2:g.43091002G>C | GRCh38 |
| NC_000017.10:g.41243019G>C , CM000679.1:g.41243019G>C | GRCh37 |
| NC_000017.9:g.38496545G>C | NCBI36 |
| NG_005905.2:g.126982C>G , LRG_292:g.126982C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4127C>G | ENSP00000417241.2:p.Thr1376Arg | |
| ENST00000470026.6:c.4127C>G | ENSP00000419274.2:p.Thr1376Arg | |
| ENST00000473961.6:c.4001C>G | ENSP00000420201.2:p.Thr1334Arg | |
| ENST00000476777.6:c.4124C>G | ENSP00000417554.2:p.Thr1375Arg | |
| ENST00000477152.6:c.4049C>G | ENSP00000419988.2:p.Thr1350Arg | |
| ENST00000478531.6:c.815C>G | ENSP00000420412.2:p.Thr272Arg | |
| ENST00000489037.2:c.4049C>G | ENSP00000420781.2:p.Thr1350Arg | |
| ENST00000493919.6:c.677C>G | ENSP00000418819.2:p.Thr226Arg | |
| ENST00000494123.6:c.4127C>G | ENSP00000419103.2:p.Thr1376Arg | |
| ENST00000497488.2:c.3239C>G | ENSP00000418986.2:p.Thr1080Arg | |
| ENST00000618469.2:c.4127C>G | ENSP00000478114.2:p.Thr1376Arg | |
| ENST00000634433.2:c.4004C>G | ENSP00000489431.2:p.Thr1335Arg | |
| ENST00000644379.2:c.4127C>G | ENSP00000496570.2:p.Thr1376Arg | |
| ENST00000644555.2:c.677C>G | ENSP00000494614.2:p.Thr226Arg | |
| ENST00000652672.2:c.3986C>G | ENSP00000498906.2:p.Thr1329Arg | |
| ENST00000484087.6:c.695C>G | ENSP00000419481.2:p.Thr232Arg | |
| ENST00000700182.1:c.737C>G | ENSP00000514849.1:p.Thr246Arg | |
| ENST00000357654.9:c.4127C>G MANE Select | ENSP00000350283.3:p.Thr1376Arg | |
| ENST00000471181.7:c.4127C>G | ENSP00000418960.2:p.Thr1376Arg | |
| ENST00000644379.1:c.448C>G | ||
| ENST00000352993.7:c.701C>G | ENSP00000312236.5:p.Thr234Arg | |
| ENST00000357654.7:c.4127C>G | ENSP00000350283.3:p.Thr1376Arg | |
| ENST00000461221.5:c.*3910C>G | ENSP00000418548.1:n.*3910C>G | |
| ENST00000461574.1:c.421C>G | ||
| ENST00000468300.5:c.818C>G | ENSP00000417148.1:p.Thr273Arg | |
| ENST00000471181.6:c.4127C>G | ENSP00000418960.2:p.Thr1376Arg | |
| ENST00000478531.5:c.815C>G | ENSP00000420412.1:p.Thr272Arg | |
| ENST00000484087.5:c.440C>G | ENSP00000419481.1:p.Thr147Arg | |
| ENST00000487825.5:c.443C>G | ENSP00000418212.1:p.Thr148Arg | |
| ENST00000491747.6:c.818C>G | ENSP00000420705.2:p.Thr273Arg | |
| ENST00000493795.5:c.3986C>G | ENSP00000418775.1:p.Thr1329Arg | |
| ENST00000493919.5:c.677C>G | ENSP00000418819.1:p.Thr226Arg | |
| ENST00000586385.5:c.5-27051C>G | ENSP00000465818.1:n.5-27051C>G | |
| ENST00000591534.5:c.-43-16481C>G | ENSP00000467329.1:n.-43-16481C>G | |
| ENST00000591849.5:c.-99+34269C>G | ENSP00000465347.1:n.-99+34269C>G | |
| NM_007294.3:c.4127C>G , LRG_292t1:c.4127C>G | NP_009225.1:p.Thr1376Arg | |
| NM_007297.3:c.3986C>G | NP_009228.2:p.Thr1329Arg | |
| NM_007298.3:c.818C>G | NP_009229.2:p.Thr273Arg | |
| NM_007299.3:c.818C>G | NP_009230.2:p.Thr273Arg | |
| NM_007300.3:c.4127C>G | NP_009231.2:p.Thr1376Arg | |
| NR_027676.1:n.4263C>G | ||
| NM_007294.4:c.4127C>G MANE Select | NP_009225.1:p.Thr1376Arg | |
| NM_007297.4:c.3986C>G | NP_009228.2:p.Thr1329Arg | |
| NM_007299.4:c.818C>G | NP_009230.2:p.Thr273Arg | |
| NM_007300.4:c.4127C>G | NP_009231.2:p.Thr1376Arg | |
| NR_027676.2:n.4304C>G |