Linked Data
ClinVar Variation Id:
55306
ClinVar RCV Id:
RCV000130592
RCV000112414
RCV000212187
RCV000148406
RCV001474576
RCV000761958
RCV001353677
dbSNP Id:
rs80357465
ExAC:
17:41223049 T / C
gnomAD v2:
17-41223049-T-C
gnomAD v3:
17-43071032-T-C
gnomAD v4:
17-43071032-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43071032T>C , CM000679.2:g.43071032T>C | GRCh38 |
| NC_000017.10:g.41223049T>C , CM000679.1:g.41223049T>C | GRCh37 |
| NC_000017.9:g.38476575T>C | NCBI36 |
| NG_005905.2:g.146952A>G , LRG_292:g.146952A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4879A>G | ENSP00000417241.2:p.Met1627Val | |
| ENST00000470026.6:c.4882A>G | ENSP00000419274.2:p.Met1628Val | |
| ENST00000473961.6:c.4756A>G | ENSP00000420201.2:p.Met1586Val | |
| ENST00000476777.6:c.4876A>G | ENSP00000417554.2:p.Met1626Val | |
| ENST00000477152.6:c.4804A>G | ENSP00000419988.2:p.Met1602Val | |
| ENST00000478531.6:c.1570A>G | ENSP00000420412.2:p.Met524Val | |
| ENST00000489037.2:c.4804A>G | ENSP00000420781.2:p.Met1602Val | |
| ENST00000493919.6:c.1432A>G | ENSP00000418819.2:p.Met478Val | |
| ENST00000494123.6:c.4882A>G | ENSP00000419103.2:p.Met1628Val | |
| ENST00000497488.2:c.3994A>G | ENSP00000418986.2:p.Met1332Val | |
| ENST00000618469.2:c.4882A>G | ENSP00000478114.2:p.Met1628Val | |
| ENST00000634433.2:c.4759A>G | ENSP00000489431.2:p.Met1587Val | |
| ENST00000644379.2:c.4948A>G | ENSP00000496570.2:p.Met1650Val | |
| ENST00000644555.2:c.1432A>G | ENSP00000494614.2:p.Met478Val | |
| ENST00000652672.2:c.4741A>G | ENSP00000498906.2:p.Met1581Val | |
| ENST00000484087.6:c.1444A>G | ENSP00000419481.2:p.Met482Val | |
| ENST00000700182.1:c.1489A>G | ENSP00000514849.1:p.Met497Val | |
| ENST00000357654.9:c.4882A>G MANE Select | ENSP00000350283.3:p.Met1628Val | |
| ENST00000471181.7:c.4945A>G | ENSP00000418960.2:p.Met1649Val | |
| ENST00000644379.1:c.1269A>G | ||
| ENST00000352993.7:c.1456A>G | ENSP00000312236.5:p.Met486Val | |
| ENST00000357654.7:c.4882A>G | ENSP00000350283.3:p.Met1628Val | |
| ENST00000461221.5:c.*4665A>G | ENSP00000418548.1:n.*4665A>G | |
| ENST00000468300.5:c.1570A>G | ENSP00000417148.1:p.Met524Val | |
| ENST00000471181.6:c.4945A>G | ENSP00000418960.2:p.Met1649Val | |
| ENST00000472490.1:n.35A>G | ||
| ENST00000478531.5:c.1570A>G | ENSP00000420412.1:p.Met524Val | |
| ENST00000484087.5:c.1195A>G | ENSP00000419481.1:p.Met399Val | |
| ENST00000491747.6:c.1570A>G | ENSP00000420705.2:p.Met524Val | |
| ENST00000493795.5:c.4741A>G | ENSP00000418775.1:p.Met1581Val | |
| ENST00000493919.5:c.1432A>G | ENSP00000418819.1:p.Met478Val | |
| ENST00000586385.5:c.5-7081A>G | ENSP00000465818.1:n.5-7081A>G | |
| ENST00000591534.5:c.355A>G | ENSP00000467329.1:p.Met119Val | |
| ENST00000591849.5:c.-98-20842A>G | ENSP00000465347.1:n.-98-20842A>G | |
| NM_007294.3:c.4882A>G , LRG_292t1:c.4882A>G | NP_009225.1:p.Met1628Val | |
| NM_007297.3:c.4741A>G | NP_009228.2:p.Met1581Val | |
| NM_007298.3:c.1570A>G | NP_009229.2:p.Met524Val | |
| NM_007299.3:c.1570A>G | NP_009230.2:p.Met524Val | |
| NM_007300.3:c.4945A>G | NP_009231.2:p.Met1649Val | |
| NR_027676.1:n.5018A>G | ||
| NM_007294.4:c.4882A>G MANE Select | NP_009225.1:p.Met1628Val | |
| NM_007297.4:c.4741A>G | NP_009228.2:p.Met1581Val | |
| NM_007299.4:c.1570A>G | NP_009230.2:p.Met524Val | |
| NM_007300.4:c.4945A>G | NP_009231.2:p.Met1649Val | |
| NR_027676.2:n.5059A>G |