Linked Data
ClinVar Variation Id:
536195
ClinVar RCV Id:
RCV000644522
RCV001159834
RCV001159835
RCV001159836
RCV001159837
RCV002060753
RCV004533371
dbSNP Id:
rs17182463
ExAC:
8:38271151 G / A
gnomAD v2:
8-38271151-G-A
gnomAD v3:
8-38413633-G-A
gnomAD v4:
8-38413633-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38413633G>A , CM000670.2:g.38413633G>A | GRCh38 |
| NC_000008.10:g.38271151G>A , CM000670.1:g.38271151G>A | GRCh37 |
| NC_000008.9:g.38390308G>A | NCBI36 |
| NG_007729.1:g.60202C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703405.1:c.2464C>T | ENSP00000515291.1:p.Arg822Cys | |
| ENST00000341462.9:c.2280+285C>T | ENSP00000340636.7:n.2280+285C>T | |
| ENST00000425967.8:c.2280+285C>T | ENSP00000393312.4:n.2280+285C>T | |
| ENST00000524528.2:n.3357C>T | ||
| ENST00000682398.1:n.1704C>T | ||
| ENST00000683132.1:n.1267C>T | ||
| ENST00000683765.1:c.2472+285C>T | ENSP00000507039.1:n.2472+285C>T | |
| ENST00000683815.1:c.2452C>T | ENSP00000507997.1:p.Arg818Cys | |
| ENST00000683948.1:n.3152C>T | ||
| ENST00000684654.1:c.2185C>T | ENSP00000507205.1:p.Arg729Cys | |
| ENST00000447712.7:c.2464C>T MANE Select | ENSP00000400162.2:p.Arg822Cys | |
| ENST00000649678.1:c.2452C>T | ENSP00000497266.1:p.Arg818Cys | |
| ENST00000674189.1:c.*1938+285C>T | ENSP00000501345.1:n.*1938+285C>T | |
| ENST00000674380.1:c.*2431C>T | ENSP00000501514.1:n.*2431C>T | |
| ENST00000674474.1:n.3958C>T | ||
| ENST00000326324.10:c.2191C>T | ENSP00000327229.6:p.Arg731Cys | |
| ENST00000335922.9:c.2434C>T | ENSP00000337247.5:p.Arg812Cys | |
| ENST00000341462.8:c.*1514C>T | ENSP00000340636.6:n.*1514C>T | |
| ENST00000356207.9:c.2197C>T | ENSP00000348537.5:p.Arg733Cys | |
| ENST00000397091.9:c.2458C>T | ENSP00000380280.5:p.Arg820Cys | |
| ENST00000397103.5:c.2197C>T | ENSP00000380292.1:p.Arg733Cys | |
| ENST00000397108.8:c.2458C>T | ENSP00000380297.4:p.Arg820Cys | |
| ENST00000397113.6:c.2458C>T | ENSP00000380302.2:p.Arg820Cys | |
| ENST00000425967.7:c.2557C>T | ENSP00000393312.3:p.Arg853Cys | |
| ENST00000447712.6:c.2464C>T | ENSP00000400162.2:p.Arg822Cys | |
| ENST00000526570.5:n.4743C>T | ||
| ENST00000526688.1:n.59+285C>T | ||
| ENST00000531196.5:c.675C>T | ENSP00000434800.1:n.675C>T | |
| ENST00000532791.5:c.2458C>T | ENSP00000432972.1:p.Arg820Cys | |
| ENST00000619564.3:c.*1359C>T | ENSP00000484553.1:n.*1359C>T | |
| NM_001174063.1:c.2458C>T | NP_001167534.1:p.Arg820Cys | |
| NM_001174064.1:c.2434C>T | NP_001167535.1:p.Arg812Cys | |
| NM_001174065.1:c.2458C>T | NP_001167536.1:p.Arg820Cys | |
| NM_001174066.1:c.2197C>T | NP_001167537.1:p.Arg733Cys | |
| NM_001174067.1:c.2557C>T | NP_001167538.1:p.Arg853Cys | |
| NM_015850.3:c.2458C>T | NP_056934.2:p.Arg820Cys | |
| NM_023105.2:c.2197C>T | NP_075593.1:p.Arg733Cys | |
| NM_023106.2:c.2191C>T | NP_075594.1:p.Arg731Cys | |
| NM_023110.2:c.2464C>T | NP_075598.2:p.Arg822Cys | |
| XM_006716303.2:c.2292+285C>T | XP_006716366.1:n.2292+285C>T | |
| XM_006716304.1:c.2292+285C>T | XP_006716367.1:n.2292+285C>T | |
| XM_006716305.2:c.2292+285C>T | XP_006716368.1:n.2292+285C>T | |
| XM_006716306.2:c.2286+285C>T | XP_006716369.1:n.2286+285C>T | |
| XM_006716307.1:c.2286+285C>T | XP_006716370.1:n.2286+285C>T | |
| XM_006716309.2:c.2268+285C>T | XP_006716372.1:n.2268+285C>T | |
| XM_006716310.2:c.2025+285C>T | XP_006716373.1:n.2025+285C>T | |
| XM_006716311.1:c.2025+285C>T | XP_006716374.1:n.2025+285C>T | |
| XM_006716312.1:c.2025+285C>T | XP_006716375.1:n.2025+285C>T | |
| XM_006716313.2:c.2019+285C>T | XP_006716376.1:n.2019+285C>T | |
| XM_006716314.1:c.2019+285C>T | XP_006716377.1:n.2019+285C>T | |
| XM_011544443.1:c.2391+285C>T | XP_011542745.1:n.2391+285C>T | |
| XM_011544444.1:c.2385+285C>T | XP_011542746.1:n.2385+285C>T | |
| XM_011544445.1:c.2385+285C>T | XP_011542747.1:n.2385+285C>T | |
| XM_011544446.1:c.2563C>T | XP_011542748.1:p.Arg855Cys | |
| XM_011544447.1:c.2557C>T | XP_011542749.1:p.Arg853Cys | |
| XM_011544448.1:c.2124+285C>T | XP_011542750.1:n.2124+285C>T | |
| XM_011544449.1:c.2118+285C>T | XP_011542751.1:n.2118+285C>T | |
| XM_011544450.1:c.2290C>T | XP_011542752.1:p.Arg764Cys | |
| XM_011544451.1:c.2001+285C>T | XP_011542753.1:n.2001+285C>T | |
| NM_001354367.1:c.2286+285C>T | NP_001341296.1:n.2286+285C>T | |
| NM_001354368.1:c.2185C>T | NP_001341297.1:p.Arg729Cys | |
| NM_001354369.1:c.2280+285C>T | NP_001341298.1:n.2280+285C>T | |
| NM_001354370.1:c.2019+285C>T | NP_001341299.1:n.2019+285C>T | |
| XM_006716303.3:c.2292+285C>T | XP_006716366.1:n.2292+285C>T | |
| XM_006716310.3:c.2025+285C>T | XP_006716373.1:n.2025+285C>T | |
| XM_006716312.2:c.2025+285C>T | XP_006716375.1:n.2025+285C>T | |
| XM_006716314.2:c.2019+285C>T | XP_006716377.1:n.2019+285C>T | |
| XM_011544443.2:c.2391+285C>T | XP_011542745.1:n.2391+285C>T | |
| XM_011544445.2:c.2385+285C>T | XP_011542747.1:n.2385+285C>T | |
| XM_011544446.2:c.2563C>T | XP_011542748.1:p.Arg855Cys | |
| XM_011544447.2:c.2557C>T | XP_011542749.1:p.Arg853Cys | |
| XM_011544450.2:c.2290C>T | XP_011542752.1:p.Arg764Cys | |
| XM_017013219.1:c.2379+285C>T | XP_016868708.1:n.2379+285C>T | |
| XM_017013220.1:c.2551C>T | XP_016868709.1:p.Arg851Cys | |
| XM_017013221.1:c.2292+285C>T | XP_016868710.1:n.2292+285C>T | |
| XM_017013222.2:c.2286+285C>T | XP_016868711.1:n.2286+285C>T | |
| XM_017013224.2:c.2452C>T | XP_016868713.1:p.Arg818Cys | |
| XM_017013225.2:c.2452C>T | XP_016868714.1:p.Arg818Cys | |
| XM_017013226.1:c.2290C>T | XP_016868715.1:p.Arg764Cys | |
| XM_017013227.1:c.2284C>T | XP_016868716.1:p.Arg762Cys | |
| XM_017013229.2:c.1320+285C>T | XP_016868718.1:n.1320+285C>T | |
| XM_017013230.1:c.1492C>T | XP_016868719.1:p.Arg498Cys | |
| XM_024447097.1:c.2268+285C>T | XP_024302865.1:n.2268+285C>T | |
| XR_001745495.1:n.2737C>T | ||
| XR_001745496.1:n.2565+285C>T | ||
| NM_001174063.2:c.2458C>T | NP_001167534.1:p.Arg820Cys | |
| NM_001174064.2:c.2434C>T | NP_001167535.1:p.Arg812Cys | |
| NM_001174065.2:c.2458C>T | NP_001167536.1:p.Arg820Cys | |
| NM_001174066.2:c.2197C>T | NP_001167537.1:p.Arg733Cys | |
| NM_001354368.2:c.2185C>T | NP_001341297.1:p.Arg729Cys | |
| NM_015850.4:c.2458C>T | NP_056934.2:p.Arg820Cys | |
| NM_023105.3:c.2197C>T | NP_075593.1:p.Arg733Cys | |
| NM_023106.3:c.2191C>T | NP_075594.1:p.Arg731Cys | |
| NM_023110.3:c.2464C>T MANE Select | NP_075598.2:p.Arg822Cys | |
| NM_001174067.2:c.2557C>T | NP_001167538.1:p.Arg853Cys | |
| NM_001354367.2:c.2286+285C>T | NP_001341296.1:n.2286+285C>T | |
| NM_001354369.2:c.2280+285C>T | NP_001341298.1:n.2280+285C>T | |
| NM_001354370.2:c.2019+285C>T | NP_001341299.1:n.2019+285C>T |