Linked Data
ClinVar Variation Id:
1393
ClinVar RCV Id:
RCV000001458
RCV000626942
RCV000665962
RCV001239533
RCV001578018
RCV001729331
RCV003415619
dbSNP Id:
rs137853105
ExAC:
17:56283840 A / C
gnomAD v2:
17-56283840-A-C
gnomAD v3:
17-58206479-A-C
gnomAD v4:
17-58206479-A-C
PubMed:
PMID:18327255
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58206479A>C , CM000679.2:g.58206479A>C | GRCh38 |
| NC_000017.10:g.56283840A>C , CM000679.1:g.56283840A>C | GRCh37 |
| NC_000017.9:g.53638839A>C | NCBI36 |
| NG_013020.1:g.18752A>C | |
| NG_013032.1:g.18127T>G , LRG_687:g.18127T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313863.11:c.1274-99T>G | ENSP00000316631.6:n.1274-99T>G | |
| ENST00000393119.7:c.1476T>G MANE Select | ENSP00000376827.2:p.Cys492Trp | |
| ENST00000537529.7:c.1047T>G | ENSP00000442096.3:p.Cys349Trp | |
| ENST00000675753.2:c.*1095T>G | ENSP00000502156.1:n.*1095T>G | |
| ENST00000676787.1:c.1347T>G | ENSP00000503999.1:p.Cys449Trp | |
| ENST00000677111.1:c.*950T>G | ENSP00000504282.1:n.*950T>G | |
| ENST00000677160.1:n.2750T>G | ||
| ENST00000677416.1:n.2713T>G | ||
| ENST00000677486.1:c.*820T>G | ENSP00000503852.1:n.*820T>G | |
| ENST00000677709.1:n.2176T>G | ||
| ENST00000678011.1:n.2376T>G | ||
| ENST00000678432.1:c.*1250T>G | ENSP00000504452.1:n.*1250T>G | |
| ENST00000678463.1:c.1408-99T>G | ENSP00000502984.1:n.1408-99T>G | |
| ENST00000678568.1:c.*815-99T>G | ENSP00000504754.1:n.*815-99T>G | |
| ENST00000678641.1:c.*820T>G | ENSP00000503159.1:n.*820T>G | |
| ENST00000678763.1:n.1791T>G | ||
| ENST00000313863.10:c.1274-99T>G | ENSP00000316631.6:n.1274-99T>G | |
| ENST00000393119.6:c.1476T>G | ENSP00000376827.2:p.Cys492Trp | |
| ENST00000393120.6:c.*883T>G | ENSP00000376828.2:n.*883T>G | |
| ENST00000537529.6:c.1446T>G | ENSP00000442096.2:p.Cys482Trp | |
| ENST00000583577.1:n.302T>G | ||
| NM_001165927.1:c.1446T>G , LRG_687t2:c.1446T>G | NP_001159399.1:p.Cys482Trp | |
| NM_017777.3:c.1476T>G , LRG_687t1:c.1476T>G | NP_060247.2:p.Cys492Trp | |
| XM_005257483.3:c.1408-99T>G | XP_005257540.1:n.1408-99T>G | |
| XM_005257485.3:c.979-99T>G | XP_005257542.1:n.979-99T>G | |
| XM_005257486.3:c.867T>G | XP_005257543.1:p.Cys289Trp | |
| XM_006721965.2:c.799-99T>G | XP_006722028.1:n.799-99T>G | |
| XM_011524957.1:c.1417-99T>G | XP_011523259.1:n.1417-99T>G | |
| XM_011524958.1:c.1485T>G | XP_011523260.1:p.Cys495Trp | |
| XM_011524959.1:c.1283-99T>G | XP_011523261.1:n.1283-99T>G | |
| NM_001321268.1:c.867T>G | NP_001308197.1:p.Cys289Trp | |
| NM_001321269.1:c.1408-99T>G | NP_001308198.1:n.1408-99T>G | |
| NM_001330397.1:c.1274-99T>G | NP_001317326.1:n.1274-99T>G | |
| XM_005257485.4:c.979-99T>G | XP_005257542.1:n.979-99T>G | |
| XM_006721965.3:c.799-99T>G | XP_006722028.1:n.799-99T>G | |
| XM_011524957.2:c.1417-99T>G | XP_011523259.1:n.1417-99T>G | |
| XM_011524958.2:c.1485T>G | XP_011523260.1:p.Cys495Trp | |
| XM_011524959.2:c.1283-99T>G | XP_011523261.1:n.1283-99T>G | |
| XM_017024805.1:c.1047T>G | XP_016880294.1:p.Cys349Trp | |
| XR_002958042.1:n.1419-99T>G | ||
| NM_001321268.2:c.867T>G | NP_001308197.1:p.Cys289Trp | |
| NM_001321269.2:c.1408-99T>G | NP_001308198.1:n.1408-99T>G | |
| NM_001330397.2:c.1274-99T>G | NP_001317326.1:n.1274-99T>G | |
| NM_017777.4:c.1476T>G MANE Select | NP_060247.2:p.Cys492Trp |