Linked Data
ClinVar Variation Id:
241187
dbSNP Id:
rs144635826
ExAC:
17:56283734 T / C
gnomAD v2:
17-56283734-T-C
gnomAD v3:
17-58206373-T-C
gnomAD v4:
17-58206373-T-C
MyVariant Identifiers:
chr17:g.56283734T>C (hg19)
chr17:g.56283734_56283735delinsCG (hg19)
chr17:g.58206373T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58206373T>C , CM000679.2:g.58206373T>C | GRCh38 |
| NC_000017.10:g.56283734T>C , CM000679.1:g.56283734T>C | GRCh37 |
| NC_000017.9:g.53638733T>C | NCBI36 |
| NG_013020.1:g.18646T>C | |
| NG_013032.1:g.18233A>G , LRG_687:g.18233A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313863.11:c.1281A>G | ENSP00000316631.6:p.Ser427= | |
| ENST00000393119.7:c.1498A>G MANE Select | ENSP00000376827.2:p.Met500Val | |
| ENST00000537529.7:c.1069A>G | ENSP00000442096.3:p.Met357Val | |
| ENST00000675753.2:c.*1117A>G | ENSP00000502156.1:n.*1117A>G | |
| ENST00000676787.1:c.1369A>G | ENSP00000503999.1:p.Met457Val | |
| ENST00000677111.1:c.*972A>G | ENSP00000504282.1:n.*972A>G | |
| ENST00000677160.1:n.2772A>G | ||
| ENST00000677416.1:n.2819A>G | ||
| ENST00000677486.1:c.*842A>G | ENSP00000503852.1:n.*842A>G | |
| ENST00000677709.1:n.2198A>G | ||
| ENST00000678011.1:n.2398A>G | ||
| ENST00000678432.1:c.*1272A>G | ENSP00000504452.1:n.*1272A>G | |
| ENST00000678463.1:c.1415A>G | ENSP00000502984.1:p.His472Arg | |
| ENST00000678568.1:c.*822A>G | ENSP00000504754.1:n.*822A>G | |
| ENST00000678641.1:c.*842A>G | ENSP00000503159.1:n.*842A>G | |
| ENST00000678763.1:n.1813A>G | ||
| ENST00000313863.10:c.1281A>G | ENSP00000316631.6:p.Ser427= | |
| ENST00000393119.6:c.1498A>G | ENSP00000376827.2:p.Met500Val | |
| ENST00000393120.6:c.*905A>G | ENSP00000376828.2:n.*905A>G | |
| ENST00000537529.6:c.1468A>G | ENSP00000442096.2:p.Met490Val | |
| ENST00000583577.1:n.324A>G | ||
| NM_001165927.1:c.1468A>G , LRG_687t2:c.1468A>G | NP_001159399.1:p.Met490Val | |
| NM_017777.3:c.1498A>G , LRG_687t1:c.1498A>G | NP_060247.2:p.Met500Val | |
| XM_005257483.3:c.1415A>G | XP_005257540.1:p.His472Arg | |
| XM_005257485.3:c.986A>G | XP_005257542.1:p.His329Arg | |
| XM_005257486.3:c.889A>G | XP_005257543.1:p.Met297Val | |
| XM_006721965.2:c.806A>G | XP_006722028.1:p.His269Arg | |
| XM_011524957.1:c.1424A>G | XP_011523259.1:p.His475Arg | |
| XM_011524958.1:c.1507A>G | XP_011523260.1:p.Met503Val | |
| XM_011524959.1:c.1290A>G | XP_011523261.1:p.Ser430= | |
| NM_001321268.1:c.889A>G | NP_001308197.1:p.Met297Val | |
| NM_001321269.1:c.1415A>G | NP_001308198.1:p.His472Arg | |
| NM_001330397.1:c.1281A>G | NP_001317326.1:p.Ser427= | |
| XM_005257485.4:c.986A>G | XP_005257542.1:p.His329Arg | |
| XM_006721965.3:c.806A>G | XP_006722028.1:p.His269Arg | |
| XM_011524957.2:c.1424A>G | XP_011523259.1:p.His475Arg | |
| XM_011524958.2:c.1507A>G | XP_011523260.1:p.Met503Val | |
| XM_011524959.2:c.1290A>G | XP_011523261.1:p.Ser430= | |
| XM_017024805.1:c.1069A>G | XP_016880294.1:p.Met357Val | |
| XR_002958042.1:n.1426A>G | ||
| NM_001321268.2:c.889A>G | NP_001308197.1:p.Met297Val | |
| NM_001321269.2:c.1415A>G | NP_001308198.1:p.His472Arg | |
| NM_001330397.2:c.1281A>G | NP_001317326.1:p.Ser427= | |
| NM_017777.4:c.1498A>G MANE Select | NP_060247.2:p.Met500Val |