Linked Data
ClinVar Variation Id:
241188
ClinVar RCV Id:
RCV000226628
RCV000728102
RCV000765372
RCV001122692
RCV001122693
RCV001820754
RCV002518354
RCV004532953
dbSNP Id:
rs200185068
ExAC:
17:56291720 C / T
gnomAD v2:
17-56291720-C-T
gnomAD v3:
17-58214359-C-T
gnomAD v4:
17-58214359-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58214359C>T , CM000679.2:g.58214359C>T | GRCh38 |
| NC_000017.10:g.56291720C>T , CM000679.1:g.56291720C>T | GRCh37 |
| NC_000017.9:g.53646719C>T | NCBI36 |
| NG_013032.1:g.10247G>A , LRG_687:g.10247G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313863.11:c.544G>A | ENSP00000316631.6:p.Val182Ile | |
| ENST00000393119.7:c.544G>A MANE Select | ENSP00000376827.2:p.Val182Ile | |
| ENST00000537529.7:c.115G>A | ENSP00000442096.3:p.Val39Ile | |
| ENST00000580127.6:c.544G>A | ENSP00000462423.2:p.Val182Ile | |
| ENST00000581761.6:c.544G>A | ENSP00000462129.2:p.Val182Ile | |
| ENST00000585134.2:c.544G>A | ENSP00000463826.2:p.Val182Ile | |
| ENST00000675753.2:c.*163G>A | ENSP00000502156.1:n.*163G>A | |
| ENST00000676787.1:c.515+382G>A | ENSP00000503999.1:n.515+382G>A | |
| ENST00000676975.1:c.409G>A | ENSP00000503970.1:n.409G>A | |
| ENST00000677076.1:n.1818G>A | ||
| ENST00000677111.1:c.544G>A | ENSP00000504282.1:p.Val182Ile | |
| ENST00000677160.1:n.1818G>A | ||
| ENST00000677416.1:n.569G>A | ||
| ENST00000677475.1:n.1821G>A | ||
| ENST00000677486.1:c.262-490G>A | ENSP00000503852.1:n.262-490G>A | |
| ENST00000677546.1:c.418-490G>A | ENSP00000504043.1:n.418-490G>A | |
| ENST00000677709.1:n.569G>A | ||
| ENST00000677791.1:n.572G>A | ||
| ENST00000678011.1:n.569G>A | ||
| ENST00000678211.1:n.2593G>A | ||
| ENST00000678432.1:c.*163G>A | ENSP00000504452.1:n.*163G>A | |
| ENST00000678463.1:c.544G>A | ENSP00000502984.1:p.Val182Ile | |
| ENST00000678481.1:n.446-490G>A | ||
| ENST00000678568.1:c.317G>A | ENSP00000504754.1:p.Arg106His | |
| ENST00000678641.1:c.418-490G>A | ENSP00000503159.1:n.418-490G>A | |
| ENST00000678928.1:n.2171G>A | ||
| ENST00000679081.1:n.2171G>A | ||
| ENST00000313863.10:c.544G>A | ENSP00000316631.6:p.Val182Ile | |
| ENST00000393119.6:c.544G>A | ENSP00000376827.2:p.Val182Ile | |
| ENST00000393120.6:c.446G>A | ENSP00000376828.2:p.Arg149His | |
| ENST00000537529.6:c.514G>A | ENSP00000442096.2:p.Val172Ile | |
| ENST00000577824.5:c.21G>A | ||
| ENST00000578789.1:c.*287G>A | ENSP00000462411.1:n.*287G>A | |
| ENST00000580127.5:c.*163G>A | ENSP00000462423.1:n.*163G>A | |
| ENST00000581761.5:c.317G>A | ENSP00000462129.1:p.Arg106His | |
| NM_001165927.1:c.514G>A , LRG_687t2:c.514G>A | NP_001159399.1:p.Val172Ile | |
| NM_017777.3:c.544G>A , LRG_687t1:c.544G>A | NP_060247.2:p.Val182Ile | |
| XM_005257483.3:c.544G>A | XP_005257540.1:p.Val182Ile | |
| XM_005257485.3:c.115G>A | XP_005257542.1:p.Val39Ile | |
| XM_005257486.3:c.-66G>A | XP_005257543.1:n.-66G>A | |
| XM_006721965.2:c.-66G>A | XP_006722028.1:n.-66G>A | |
| XM_011524957.1:c.553G>A | XP_011523259.1:p.Val185Ile | |
| XM_011524958.1:c.553G>A | XP_011523260.1:p.Val185Ile | |
| XM_011524959.1:c.553G>A | XP_011523261.1:p.Val185Ile | |
| XM_011524960.1:c.553G>A | XP_011523262.1:p.Val185Ile | |
| XR_934494.1:n.601G>A | ||
| NM_001321268.1:c.-66G>A | NP_001308197.1:n.-66G>A | |
| NM_001321269.1:c.544G>A | NP_001308198.1:p.Val182Ile | |
| NM_001330397.1:c.544G>A | NP_001317326.1:p.Val182Ile | |
| XM_005257485.4:c.115G>A | XP_005257542.1:p.Val39Ile | |
| XM_006721965.3:c.-66G>A | XP_006722028.1:n.-66G>A | |
| XM_011524957.2:c.553G>A | XP_011523259.1:p.Val185Ile | |
| XM_011524958.2:c.553G>A | XP_011523260.1:p.Val185Ile | |
| XM_011524959.2:c.553G>A | XP_011523261.1:p.Val185Ile | |
| XM_011524960.2:c.553G>A | XP_011523262.1:p.Val185Ile | |
| XM_017024804.2:c.544G>A | XP_016880293.1:p.Val182Ile | |
| XM_017024805.1:c.115G>A | XP_016880294.1:p.Val39Ile | |
| XR_002958042.1:n.598G>A | ||
| NM_001321268.2:c.-66G>A | NP_001308197.1:n.-66G>A | |
| NM_001321269.2:c.544G>A | NP_001308198.1:p.Val182Ile | |
| NM_001330397.2:c.544G>A | NP_001317326.1:p.Val182Ile | |
| NM_017777.4:c.544G>A MANE Select | NP_060247.2:p.Val182Ile |