Linked Data
ClinVar Variation Id:
868915
ClinVar RCV Id:
RCV001077913
dbSNP Id:
rs2052185251
MyVariant Identifiers:
chr17:g.41219695A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43067678A>G , CM000679.2:g.43067678A>G | GRCh38 |
| NC_000017.10:g.41219695A>G , CM000679.1:g.41219695A>G | GRCh37 |
| NC_000017.9:g.38473221A>G | NCBI36 |
| NG_005905.2:g.150306T>C , LRG_292:g.150306T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5001T>C | ENSP00000417241.2:p.Phe1667= | |
| ENST00000470026.6:c.5004T>C | ENSP00000419274.2:p.Phe1668= | |
| ENST00000473961.6:c.4878T>C | ENSP00000420201.2:p.Phe1626= | |
| ENST00000476777.6:c.4998T>C | ENSP00000417554.2:p.Phe1666= | |
| ENST00000477152.6:c.4926T>C | ENSP00000419988.2:p.Phe1642= | |
| ENST00000478531.6:c.1692T>C | ENSP00000420412.2:p.Phe564= | |
| ENST00000489037.2:c.4926T>C | ENSP00000420781.2:p.Phe1642= | |
| ENST00000493919.6:c.1554T>C | ENSP00000418819.2:p.Phe518= | |
| ENST00000494123.6:c.5004T>C | ENSP00000419103.2:p.Phe1668= | |
| ENST00000497488.2:c.4116T>C | ENSP00000418986.2:p.Phe1372= | |
| ENST00000618469.2:c.5004T>C | ENSP00000478114.2:p.Phe1668= | |
| ENST00000634433.2:c.4881T>C | ENSP00000489431.2:p.Phe1627= | |
| ENST00000644379.2:c.5070T>C | ENSP00000496570.2:p.Phe1690= | |
| ENST00000644555.2:c.1554T>C | ENSP00000494614.2:p.Phe518= | |
| ENST00000652672.2:c.4863T>C | ENSP00000498906.2:p.Phe1621= | |
| ENST00000484087.6:c.1566T>C | ENSP00000419481.2:p.Phe522= | |
| ENST00000357654.9:c.5004T>C MANE Select | ENSP00000350283.3:p.Phe1668= | |
| ENST00000471181.7:c.5067T>C | ENSP00000418960.2:p.Phe1689= | |
| ENST00000644379.1:c.1391T>C | ||
| ENST00000352993.7:c.1578T>C | ENSP00000312236.5:p.Phe526= | |
| ENST00000357654.7:c.5004T>C | ENSP00000350283.3:p.Phe1668= | |
| ENST00000461221.5:c.*4787T>C | ENSP00000418548.1:n.*4787T>C | |
| ENST00000468300.5:c.1692T>C | ENSP00000417148.1:p.Phe564= | |
| ENST00000471181.6:c.5067T>C | ENSP00000418960.2:p.Phe1689= | |
| ENST00000472490.1:n.157T>C | ||
| ENST00000478531.5:c.1692T>C | ENSP00000420412.1:p.Phe564= | |
| ENST00000484087.5:c.1317T>C | ENSP00000419481.1:p.Phe439= | |
| ENST00000491747.6:c.1692T>C | ENSP00000420705.2:p.Phe564= | |
| ENST00000493795.5:c.4863T>C | ENSP00000418775.1:p.Phe1621= | |
| ENST00000493919.5:c.1554T>C | ENSP00000418819.1:p.Phe518= | |
| ENST00000586385.5:c.5-3727T>C | ENSP00000465818.1:n.5-3727T>C | |
| ENST00000591534.5:c.477T>C | ENSP00000467329.1:p.Phe159= | |
| ENST00000591849.5:c.-98-17488T>C | ENSP00000465347.1:n.-98-17488T>C | |
| NM_007294.3:c.5004T>C , LRG_292t1:c.5004T>C | NP_009225.1:p.Phe1668= | |
| NM_007297.3:c.4863T>C | NP_009228.2:p.Phe1621= | |
| NM_007298.3:c.1692T>C | NP_009229.2:p.Phe564= | |
| NM_007299.3:c.1692T>C | NP_009230.2:p.Phe564= | |
| NM_007300.3:c.5067T>C | NP_009231.2:p.Phe1689= | |
| NR_027676.1:n.5140T>C | ||
| NM_007294.4:c.5004T>C MANE Select | NP_009225.1:p.Phe1668= | |
| NM_007297.4:c.4863T>C | NP_009228.2:p.Phe1621= | |
| NM_007299.4:c.1692T>C | NP_009230.2:p.Phe564= | |
| NM_007300.4:c.5067T>C | NP_009231.2:p.Phe1689= | |
| NR_027676.2:n.5181T>C |