Linked Data
ClinVar Variation Id:
220047
dbSNP Id:
rs35464956
ExAC:
17:56283511 G / A
gnomAD v2:
17-56283511-G-A
gnomAD v3:
17-58206150-G-A
gnomAD v4:
17-58206150-G-A
COSMIC:
COSM3691704
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58206150G>A , CM000679.2:g.58206150G>A | GRCh38 |
| NC_000017.10:g.56283511G>A , CM000679.1:g.56283511G>A | GRCh37 |
| NC_000017.9:g.53638510G>A | NCBI36 |
| NG_013020.1:g.18423G>A | |
| NG_013032.1:g.18456C>T , LRG_687:g.18456C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313863.11:c.*21C>T | ENSP00000316631.6:n.*21C>T | |
| ENST00000393119.7:c.1609C>T MANE Select | ENSP00000376827.2:p.Arg537Cys | |
| ENST00000537529.7:c.1180C>T | ENSP00000442096.3:p.Arg394Cys | |
| ENST00000675753.2:c.*1228C>T | ENSP00000502156.1:n.*1228C>T | |
| ENST00000676787.1:c.1480C>T | ENSP00000503999.1:p.Arg494Cys | |
| ENST00000677111.1:c.*1083C>T | ENSP00000504282.1:n.*1083C>T | |
| ENST00000677160.1:n.2883C>T | ||
| ENST00000677416.1:n.2930C>T | ||
| ENST00000677486.1:c.*953C>T | ENSP00000503852.1:n.*953C>T | |
| ENST00000677709.1:n.2309C>T | ||
| ENST00000678011.1:n.2509C>T | ||
| ENST00000678432.1:c.*1383C>T | ENSP00000504452.1:n.*1383C>T | |
| ENST00000678463.1:c.1526C>T | ENSP00000502984.1:p.Ala509Val | |
| ENST00000678568.1:c.*933C>T | ENSP00000504754.1:n.*933C>T | |
| ENST00000678641.1:c.*953C>T | ENSP00000503159.1:n.*953C>T | |
| ENST00000678763.1:n.1924C>T | ||
| ENST00000313863.10:c.*21C>T | ENSP00000316631.6:n.*21C>T | |
| ENST00000393119.6:c.1609C>T | ENSP00000376827.2:p.Arg537Cys | |
| ENST00000393120.6:c.*1016C>T | ENSP00000376828.2:n.*1016C>T | |
| ENST00000537529.6:c.1579C>T | ENSP00000442096.2:p.Arg527Cys | |
| ENST00000583577.1:n.435C>T | ||
| NM_001165927.1:c.1579C>T , LRG_687t2:c.1579C>T | NP_001159399.1:p.Arg527Cys | |
| NM_017777.3:c.1609C>T , LRG_687t1:c.1609C>T | NP_060247.2:p.Arg537Cys | |
| XM_005257483.3:c.1526C>T | XP_005257540.1:p.Ala509Val | |
| XM_005257485.3:c.1097C>T | XP_005257542.1:p.Ala366Val | |
| XM_005257486.3:c.1000C>T | XP_005257543.1:p.Arg334Cys | |
| XM_006721965.2:c.917C>T | XP_006722028.1:p.Ala306Val | |
| XM_011524957.1:c.1535C>T | XP_011523259.1:p.Ala512Val | |
| XM_011524958.1:c.1618C>T | XP_011523260.1:p.Arg540Cys | |
| XM_011524959.1:c.*21C>T | XP_011523261.1:n.*21C>T | |
| NM_001321268.1:c.1000C>T | NP_001308197.1:p.Arg334Cys | |
| NM_001321269.1:c.1526C>T | NP_001308198.1:p.Ala509Val | |
| NM_001330397.1:c.*21C>T | NP_001317326.1:n.*21C>T | |
| XM_005257485.4:c.1097C>T | XP_005257542.1:p.Ala366Val | |
| XM_006721965.3:c.917C>T | XP_006722028.1:p.Ala306Val | |
| XM_011524957.2:c.1535C>T | XP_011523259.1:p.Ala512Val | |
| XM_011524958.2:c.1618C>T | XP_011523260.1:p.Arg540Cys | |
| XM_011524959.2:c.*21C>T | XP_011523261.1:n.*21C>T | |
| XM_017024805.1:c.1180C>T | XP_016880294.1:p.Arg394Cys | |
| XR_002958042.1:n.1537C>T | ||
| NM_001321268.2:c.1000C>T | NP_001308197.1:p.Arg334Cys | |
| NM_001321269.2:c.1526C>T | NP_001308198.1:p.Ala509Val | |
| NM_001330397.2:c.*21C>T | NP_001317326.1:n.*21C>T | |
| NM_017777.4:c.1609C>T MANE Select | NP_060247.2:p.Arg537Cys |