Linked Data
ClinVar Variation Id:
522834
ClinVar RCV Id:
RCV000626006
dbSNP Id:
rs200507358
ExAC:
1:93131516 G / A
gnomAD v2:
1-93131516-G-A
gnomAD v3:
1-92665959-G-A
gnomAD v4:
1-92665959-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92665959G>A , CM000663.2:g.92665959G>A | GRCh38 |
| NC_000001.10:g.93131516G>A , CM000663.1:g.93131516G>A | GRCh37 |
| NC_000001.9:g.92904104G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000540033.3:c.1324C>T | ENSP00000440826.2:p.Arg442Cys | |
| ENST00000706843.1:c.1315C>T | ENSP00000516584.1:p.Arg439Cys | |
| ENST00000706845.1:c.*1025C>T | ENSP00000516587.1:n.*1025C>T | |
| ENST00000706846.1:c.1192C>T | ENSP00000516588.1:p.Arg398Cys | |
| ENST00000706867.1:c.1273C>T | ENSP00000516594.1:p.Arg425Cys | |
| ENST00000706868.1:c.1192C>T | ENSP00000516595.1:p.Arg398Cys | |
| ENST00000706869.1:n.310-62160C>T | ||
| ENST00000706870.1:n.1229C>T | ||
| ENST00000706883.1:c.-21C>T | ENSP00000516600.1:n.-21C>T | |
| ENST00000706884.1:n.1517C>T | ||
| ENST00000706885.1:c.1057C>T | ENSP00000516601.1:p.Arg353Cys | |
| ENST00000684568.2:c.1192C>T MANE Select | ENSP00000506999.1:p.Arg398Cys | |
| ENST00000370331.5:c.1324C>T | ENSP00000359356.1:p.Arg442Cys | |
| ENST00000468580.5:n.54C>T | ||
| ENST00000492613.1:n.95C>T | ||
| ENST00000540033.2:c.1324C>T | ENSP00000440826.2:p.Arg442Cys | |
| NM_001308248.1:c.1324C>T | NP_001295177.1:p.Arg442Cys | |
| NM_005665.4:c.1324C>T | NP_005656.4:p.Arg442Cys | |
| NM_005665.5:c.1324C>T | NP_005656.4:p.Arg442Cys | |
| XM_011542099.1:c.1396C>T | XP_011540401.1:p.Arg466Cys | |
| XM_011542100.1:c.1396C>T | XP_011540402.1:p.Arg466Cys | |
| XM_011542101.1:c.1273C>T | XP_011540403.1:p.Arg425Cys | |
| XM_011542102.1:c.1396C>T | XP_011540404.1:p.Arg466Cys | |
| XM_011542103.1:c.1396C>T | XP_011540405.1:p.Arg466Cys | |
| XM_011542104.1:c.1396C>T | XP_011540406.1:p.Arg466Cys | |
| XM_011542105.1:c.1396C>T | XP_011540407.1:p.Arg466Cys | |
| XM_011542107.1:c.1324C>T | XP_011540409.1:p.Arg442Cys | |
| XM_011542108.1:c.1396C>T | XP_011540410.1:p.Arg466Cys | |
| XM_011542109.1:c.1396C>T | XP_011540411.1:p.Arg466Cys | |
| XM_011542110.1:c.1396C>T | XP_011540412.1:p.Arg466Cys | |
| XM_011542111.1:c.1396C>T | XP_011540413.1:p.Arg466Cys | |
| NM_001350197.1:c.1192C>T | NP_001337126.1:p.Arg398Cys | |
| NM_001350198.1:c.1192C>T | NP_001337127.1:p.Arg398Cys | |
| XM_017002269.1:c.1405C>T | XP_016857758.1:p.Arg469Cys | |
| XM_017002270.2:c.1396C>T | XP_016857759.1:p.Arg466Cys | |
| XM_017002271.2:c.1324C>T | XP_016857760.1:p.Arg442Cys | |
| XM_017002272.1:c.1405C>T | XP_016857761.1:p.Arg469Cys | |
| XM_017002273.2:c.1273C>T | XP_016857762.1:p.Arg425Cys | |
| XM_017002274.1:c.1273C>T | XP_016857763.1:p.Arg425Cys | |
| XM_017002275.1:c.1273C>T | XP_016857764.1:p.Arg425Cys | |
| XM_017002276.2:c.1192C>T | XP_016857765.1:p.Arg398Cys | |
| XM_017002277.1:c.1324C>T | XP_016857766.1:p.Arg442Cys | |
| XM_017002278.1:c.1405C>T | XP_016857767.1:p.Arg469Cys | |
| XM_017002279.1:c.1138C>T | XP_016857768.1:p.Arg380Cys | |
| XM_017002281.2:c.1315C>T | XP_016857770.1:p.Arg439Cys | |
| XM_017002282.1:c.1405C>T | XP_016857771.1:p.Arg469Cys | |
| XM_017002283.1:c.1324C>T | XP_016857772.1:p.Arg442Cys | |
| XM_017002284.2:c.1192C>T | XP_016857773.1:p.Arg398Cys | |
| XM_017002286.2:c.781C>T | XP_016857775.1:p.Arg261Cys | |
| XM_017002287.2:c.781C>T | XP_016857776.1:p.Arg261Cys | |
| XM_017002288.1:c.781C>T | XP_016857777.1:p.Arg261Cys | |
| XM_024449686.1:c.1324C>T | XP_024305454.1:p.Arg442Cys | |
| XM_024449689.1:c.1405C>T | XP_024305457.1:p.Arg469Cys | |
| XM_024449690.1:c.1057C>T | XP_024305458.1:p.Arg353Cys | |
| XR_001737401.1:n.1413C>T | ||
| NM_001308248.2:c.1324C>T | NP_001295177.1:p.Arg442Cys | |
| NM_001350197.2:c.1192C>T MANE Select | NP_001337126.1:p.Arg398Cys | |
| NM_001350198.2:c.1192C>T | NP_001337127.1:p.Arg398Cys | |
| NM_001377210.1:c.1315C>T | NP_001364139.1:p.Arg439Cys | |
| NM_001377211.1:c.1192C>T | NP_001364140.1:p.Arg398Cys | |
| NM_001377212.1:c.1192C>T | NP_001364141.1:p.Arg398Cys | |
| NM_001377213.1:c.1273C>T | NP_001364142.1:p.Arg425Cys | |
| NM_005665.6:c.1324C>T | NP_005656.4:p.Arg442Cys |