Linked Data
ClinVar Variation Id:
462666
dbSNP Id:
rs80357432
ExAC:
17:41209086 C / G
gnomAD v2:
17-41209086-C-G
gnomAD v4:
17-43057069-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43057069C>G , CM000679.2:g.43057069C>G | GRCh38 |
| NC_000017.10:g.41209086C>G , CM000679.1:g.41209086C>G | GRCh37 |
| NC_000017.9:g.38462612C>G | NCBI36 |
| NG_005905.2:g.160915G>C , LRG_292:g.160915G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5257G>C | ENSP00000417241.2:p.Glu1753Gln | |
| ENST00000470026.6:c.5260G>C | ENSP00000419274.2:p.Glu1754Gln | |
| ENST00000473961.6:c.5134G>C | ENSP00000420201.2:p.Glu1712Gln | |
| ENST00000476777.6:c.5254G>C | ENSP00000417554.2:p.Glu1752Gln | |
| ENST00000477152.6:c.5182G>C | ENSP00000419988.2:p.Glu1728Gln | |
| ENST00000478531.6:c.1948G>C | ENSP00000420412.2:p.Glu650Gln | |
| ENST00000489037.2:c.5182G>C | ENSP00000420781.2:p.Glu1728Gln | |
| ENST00000493919.6:c.1810G>C | ENSP00000418819.2:p.Glu604Gln | |
| ENST00000494123.6:c.5260G>C | ENSP00000419103.2:p.Glu1754Gln | |
| ENST00000497488.2:c.4372G>C | ENSP00000418986.2:p.Glu1458Gln | |
| ENST00000618469.2:c.5260G>C | ENSP00000478114.2:p.Glu1754Gln | |
| ENST00000634433.2:c.5137G>C | ENSP00000489431.2:p.Glu1713Gln | |
| ENST00000644379.2:c.5326G>C | ENSP00000496570.2:p.Glu1776Gln | |
| ENST00000644555.2:c.1810G>C | ENSP00000494614.2:p.Glu604Gln | |
| ENST00000652672.2:c.5119G>C | ENSP00000498906.2:p.Glu1707Gln | |
| ENST00000484087.6:c.1822G>C | ENSP00000419481.2:p.Glu608Gln | |
| ENST00000357654.9:c.5260G>C MANE Select | ENSP00000350283.3:p.Glu1754Gln | |
| ENST00000471181.7:c.5323G>C | ENSP00000418960.2:p.Glu1775Gln | |
| ENST00000644379.1:c.1647G>C | ||
| ENST00000352993.7:c.1834G>C | ENSP00000312236.5:p.Glu612Gln | |
| ENST00000357654.7:c.5260G>C | ENSP00000350283.3:p.Glu1754Gln | |
| ENST00000461221.5:c.*5043G>C | ENSP00000418548.1:n.*5043G>C | |
| ENST00000468300.5:c.1948G>C | ENSP00000417148.1:p.Glu650Gln | |
| ENST00000471181.6:c.5323G>C | ENSP00000418960.2:p.Glu1775Gln | |
| ENST00000491747.6:c.1948G>C | ENSP00000420705.2:p.Glu650Gln | |
| ENST00000493795.5:c.5119G>C | ENSP00000418775.1:p.Glu1707Gln | |
| ENST00000586385.5:c.190G>C | ENSP00000465818.1:p.Glu64Gln | |
| ENST00000591534.5:c.733G>C | ENSP00000467329.1:p.Glu245Gln | |
| ENST00000591849.5:c.-98-6879G>C | ENSP00000465347.1:n.-98-6879G>C | |
| NM_007294.3:c.5260G>C , LRG_292t1:c.5260G>C | NP_009225.1:p.Glu1754Gln | |
| NM_007297.3:c.5119G>C | NP_009228.2:p.Glu1707Gln | |
| NM_007298.3:c.1948G>C | NP_009229.2:p.Glu650Gln | |
| NM_007299.3:c.1948G>C | NP_009230.2:p.Glu650Gln | |
| NM_007300.3:c.5323G>C | NP_009231.2:p.Glu1775Gln | |
| NR_027676.1:n.5396G>C | ||
| NM_007294.4:c.5260G>C MANE Select | NP_009225.1:p.Glu1754Gln | |
| NM_007297.4:c.5119G>C | NP_009228.2:p.Glu1707Gln | |
| NM_007299.4:c.1948G>C | NP_009230.2:p.Glu650Gln | |
| NM_007300.4:c.5323G>C | NP_009231.2:p.Glu1775Gln | |
| NR_027676.2:n.5437G>C |