Linked Data
ClinVar Variation Id:
37659
ClinVar RCV Id:
RCV000031240
RCV000129758
RCV000167822
RCV000414204
RCV000585920
RCV000735500
RCV001353920
RCV001818195
RCV003492309
dbSNP Id:
rs55808233
ExAC:
17:41201196 A / G
gnomAD v2:
17-41201196-A-G
gnomAD v3:
17-43049179-A-G
gnomAD v4:
17-43049179-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43049179A>G , CM000679.2:g.43049179A>G | GRCh38 |
| NC_000017.10:g.41201196A>G , CM000679.1:g.41201196A>G | GRCh37 |
| NC_000017.9:g.38454722A>G | NCBI36 |
| NG_005905.2:g.168805T>C , LRG_292:g.168805T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5345T>C | ENSP00000417241.2:p.Met1782Thr | |
| ENST00000470026.6:c.5348T>C | ENSP00000419274.2:p.Met1783Thr | |
| ENST00000473961.6:c.5222T>C | ENSP00000420201.2:p.Met1741Thr | |
| ENST00000476777.6:c.5342T>C | ENSP00000417554.2:p.Met1781Thr | |
| ENST00000477152.6:c.5270T>C | ENSP00000419988.2:p.Met1757Thr | |
| ENST00000478531.6:c.2036T>C | ENSP00000420412.2:p.Met679Thr | |
| ENST00000489037.2:c.5270T>C | ENSP00000420781.2:p.Met1757Thr | |
| ENST00000493919.6:c.1898T>C | ENSP00000418819.2:p.Met633Thr | |
| ENST00000494123.6:c.5348T>C | ENSP00000419103.2:p.Met1783Thr | |
| ENST00000497488.2:c.4460T>C | ENSP00000418986.2:p.Met1487Thr | |
| ENST00000618469.2:c.5348T>C | ENSP00000478114.2:p.Met1783Thr | |
| ENST00000634433.2:c.5225T>C | ENSP00000489431.2:p.Met1742Thr | |
| ENST00000644379.2:c.5414T>C | ENSP00000496570.2:p.Met1805Thr | |
| ENST00000644555.2:c.1898T>C | ENSP00000494614.2:p.Met633Thr | |
| ENST00000652672.2:c.5207T>C | ENSP00000498906.2:p.Met1736Thr | |
| ENST00000484087.6:c.1910T>C | ENSP00000419481.2:p.Met637Thr | |
| ENST00000700081.1:n.1231T>C | ||
| ENST00000357654.9:c.5348T>C MANE Select | ENSP00000350283.3:p.Met1783Thr | |
| ENST00000471181.7:c.5411T>C | ENSP00000418960.2:p.Met1804Thr | |
| ENST00000644379.1:c.1735T>C | ||
| ENST00000352993.7:c.1922T>C | ENSP00000312236.5:p.Met641Thr | |
| ENST00000357654.7:c.5348T>C | ENSP00000350283.3:p.Met1783Thr | |
| ENST00000461221.5:c.*5131T>C | ENSP00000418548.1:n.*5131T>C | |
| ENST00000468300.5:c.2021-1476T>C | ENSP00000417148.1:n.2021-1476T>C | |
| ENST00000471181.6:c.5411T>C | ENSP00000418960.2:p.Met1804Thr | |
| ENST00000491747.6:c.2036T>C | ENSP00000420705.2:p.Met679Thr | |
| ENST00000493795.5:c.5207T>C | ENSP00000418775.1:p.Met1736Thr | |
| ENST00000586385.5:c.278T>C | ENSP00000465818.1:p.Met93Thr | |
| ENST00000591534.5:c.821T>C | ENSP00000467329.1:p.Met274Thr | |
| ENST00000591849.5:c.47T>C | ENSP00000465347.1:p.Met16Thr | |
| NM_007294.3:c.5348T>C , LRG_292t1:c.5348T>C | NP_009225.1:p.Met1783Thr | |
| NM_007297.3:c.5207T>C | NP_009228.2:p.Met1736Thr | |
| NM_007298.3:c.2036T>C | NP_009229.2:p.Met679Thr | |
| NM_007299.3:c.2021-1476T>C | NP_009230.2:n.2021-1476T>C | |
| NM_007300.3:c.5411T>C | NP_009231.2:p.Met1804Thr | |
| NR_027676.1:n.5484T>C | ||
| NM_007294.4:c.5348T>C MANE Select | NP_009225.1:p.Met1783Thr | |
| NM_007297.4:c.5207T>C | NP_009228.2:p.Met1736Thr | |
| NM_007299.4:c.2021-1476T>C | NP_009230.2:n.2021-1476T>C | |
| NM_007300.4:c.5411T>C | NP_009231.2:p.Met1804Thr | |
| NR_027676.2:n.5525T>C |