Linked Data
ClinVar Variation Id:
864875
dbSNP Id:
rs1567772105
MyVariant Identifiers:
chr17:g.41219656A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43067639A>G , CM000679.2:g.43067639A>G | GRCh38 |
| NC_000017.10:g.41219656A>G , CM000679.1:g.41219656A>G | GRCh37 |
| NC_000017.9:g.38473182A>G | NCBI36 |
| NG_005905.2:g.150345T>C , LRG_292:g.150345T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5040T>C | ENSP00000417241.2:p.Thr1680= | |
| ENST00000470026.6:c.5043T>C | ENSP00000419274.2:p.Thr1681= | |
| ENST00000473961.6:c.4917T>C | ENSP00000420201.2:p.Thr1639= | |
| ENST00000476777.6:c.5037T>C | ENSP00000417554.2:p.Thr1679= | |
| ENST00000477152.6:c.4965T>C | ENSP00000419988.2:p.Thr1655= | |
| ENST00000478531.6:c.1731T>C | ENSP00000420412.2:p.Thr577= | |
| ENST00000489037.2:c.4965T>C | ENSP00000420781.2:p.Thr1655= | |
| ENST00000493919.6:c.1593T>C | ENSP00000418819.2:p.Thr531= | |
| ENST00000494123.6:c.5043T>C | ENSP00000419103.2:p.Thr1681= | |
| ENST00000497488.2:c.4155T>C | ENSP00000418986.2:p.Thr1385= | |
| ENST00000618469.2:c.5043T>C | ENSP00000478114.2:p.Thr1681= | |
| ENST00000634433.2:c.4920T>C | ENSP00000489431.2:p.Thr1640= | |
| ENST00000644379.2:c.5109T>C | ENSP00000496570.2:p.Thr1703= | |
| ENST00000644555.2:c.1593T>C | ENSP00000494614.2:p.Thr531= | |
| ENST00000652672.2:c.4902T>C | ENSP00000498906.2:p.Thr1634= | |
| ENST00000484087.6:c.1605T>C | ENSP00000419481.2:p.Thr535= | |
| ENST00000357654.9:c.5043T>C MANE Select | ENSP00000350283.3:p.Thr1681= | |
| ENST00000471181.7:c.5106T>C | ENSP00000418960.2:p.Thr1702= | |
| ENST00000644379.1:c.1430T>C | ||
| ENST00000352993.7:c.1617T>C | ENSP00000312236.5:p.Thr539= | |
| ENST00000357654.7:c.5043T>C | ENSP00000350283.3:p.Thr1681= | |
| ENST00000461221.5:c.*4826T>C | ENSP00000418548.1:n.*4826T>C | |
| ENST00000468300.5:c.1731T>C | ENSP00000417148.1:p.Thr577= | |
| ENST00000471181.6:c.5106T>C | ENSP00000418960.2:p.Thr1702= | |
| ENST00000472490.1:n.196T>C | ||
| ENST00000478531.5:c.1731T>C | ENSP00000420412.1:p.Thr577= | |
| ENST00000484087.5:c.1356T>C | ENSP00000419481.1:p.Thr452= | |
| ENST00000491747.6:c.1731T>C | ENSP00000420705.2:p.Thr577= | |
| ENST00000493795.5:c.4902T>C | ENSP00000418775.1:p.Thr1634= | |
| ENST00000493919.5:c.1593T>C | ENSP00000418819.1:p.Thr531= | |
| ENST00000586385.5:c.5-3688T>C | ENSP00000465818.1:n.5-3688T>C | |
| ENST00000591534.5:c.516T>C | ENSP00000467329.1:p.Thr172= | |
| ENST00000591849.5:c.-98-17449T>C | ENSP00000465347.1:n.-98-17449T>C | |
| NM_007294.3:c.5043T>C , LRG_292t1:c.5043T>C | NP_009225.1:p.Thr1681= | |
| NM_007297.3:c.4902T>C | NP_009228.2:p.Thr1634= | |
| NM_007298.3:c.1731T>C | NP_009229.2:p.Thr577= | |
| NM_007299.3:c.1731T>C | NP_009230.2:p.Thr577= | |
| NM_007300.3:c.5106T>C | NP_009231.2:p.Thr1702= | |
| NR_027676.1:n.5179T>C | ||
| NM_007294.4:c.5043T>C MANE Select | NP_009225.1:p.Thr1681= | |
| NM_007297.4:c.4902T>C | NP_009228.2:p.Thr1634= | |
| NM_007299.4:c.1731T>C | NP_009230.2:p.Thr577= | |
| NM_007300.4:c.5106T>C | NP_009231.2:p.Thr1702= | |
| NR_027676.2:n.5220T>C |