Linked Data
ClinVar Variation Id:
362874
dbSNP Id:
rs542417198
gnomAD v2:
8-38270120-A-G
gnomAD v3:
8-38412602-A-G
gnomAD v4:
8-38412602-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38412602A>G , CM000670.2:g.38412602A>G | GRCh38 |
| NC_000008.10:g.38270120A>G , CM000670.1:g.38270120A>G | GRCh37 |
| NC_000008.9:g.38389277A>G | NCBI36 |
| NG_007729.1:g.61233T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703405.1:c.*1026T>C | ENSP00000515291.1:n.*1026T>C | |
| ENST00000341462.9:c.2281-7T>C | ENSP00000340636.7:n.2281-7T>C | |
| ENST00000425967.8:c.2281-7T>C | ENSP00000393312.4:n.2281-7T>C | |
| ENST00000683765.1:c.2473-7T>C | ENSP00000507039.1:n.2473-7T>C | |
| ENST00000447712.7:c.*1026T>C MANE Select | ENSP00000400162.2:n.*1026T>C | |
| ENST00000649678.1:c.*1026T>C | ENSP00000497266.1:n.*1026T>C | |
| ENST00000674189.1:c.*1939-7T>C | ENSP00000501345.1:n.*1939-7T>C | |
| ENST00000674380.1:c.*3462T>C | ENSP00000501514.1:n.*3462T>C | |
| ENST00000341462.8:c.*2545T>C | ENSP00000340636.6:n.*2545T>C | |
| ENST00000397091.9:c.*1026T>C | ENSP00000380280.5:n.*1026T>C | |
| ENST00000425967.7:c.*1026T>C | ENSP00000393312.3:n.*1026T>C | |
| ENST00000447712.6:c.*1026T>C | ENSP00000400162.2:n.*1026T>C | |
| ENST00000526688.1:n.60-7T>C | ||
| ENST00000532791.5:c.*1026T>C | ENSP00000432972.1:n.*1026T>C | |
| ENST00000619564.3:c.*2390T>C | ENSP00000484553.1:n.*2390T>C | |
| NM_001174063.1:c.*1026T>C | NP_001167534.1:n.*1026T>C | |
| NM_001174064.1:c.*1026T>C | NP_001167535.1:n.*1026T>C | |
| NM_001174065.1:c.*1026T>C | NP_001167536.1:n.*1026T>C | |
| NM_001174066.1:c.*1026T>C | NP_001167537.1:n.*1026T>C | |
| NM_001174067.1:c.*1026T>C | NP_001167538.1:n.*1026T>C | |
| NM_015850.3:c.*1026T>C | NP_056934.2:n.*1026T>C | |
| NM_023105.2:c.*1026T>C | NP_075593.1:n.*1026T>C | |
| NM_023106.2:c.*1026T>C | NP_075594.1:n.*1026T>C | |
| NM_023110.2:c.*1026T>C | NP_075598.2:n.*1026T>C | |
| XM_006716303.2:c.2293-7T>C | XP_006716366.1:n.2293-7T>C | |
| XM_006716304.1:c.2293-7T>C | XP_006716367.1:n.2293-7T>C | |
| XM_006716305.2:c.2293-7T>C | XP_006716368.1:n.2293-7T>C | |
| XM_006716306.2:c.2287-7T>C | XP_006716369.1:n.2287-7T>C | |
| XM_006716307.1:c.2287-7T>C | XP_006716370.1:n.2287-7T>C | |
| XM_006716309.2:c.2269-7T>C | XP_006716372.1:n.2269-7T>C | |
| XM_006716310.2:c.2026-7T>C | XP_006716373.1:n.2026-7T>C | |
| XM_006716311.1:c.2026-7T>C | XP_006716374.1:n.2026-7T>C | |
| XM_006716312.1:c.2026-7T>C | XP_006716375.1:n.2026-7T>C | |
| XM_006716313.2:c.2020-7T>C | XP_006716376.1:n.2020-7T>C | |
| XM_006716314.1:c.2020-7T>C | XP_006716377.1:n.2020-7T>C | |
| XM_011544443.1:c.2392-7T>C | XP_011542745.1:n.2392-7T>C | |
| XM_011544444.1:c.2386-7T>C | XP_011542746.1:n.2386-7T>C | |
| XM_011544445.1:c.2386-7T>C | XP_011542747.1:n.2386-7T>C | |
| XM_011544448.1:c.2125-7T>C | XP_011542750.1:n.2125-7T>C | |
| XM_011544449.1:c.2119-7T>C | XP_011542751.1:n.2119-7T>C | |
| XM_011544451.1:c.2002-7T>C | XP_011542753.1:n.2002-7T>C | |
| NM_001354367.1:c.2287-7T>C | NP_001341296.1:n.2287-7T>C | |
| NM_001354368.1:c.*1026T>C | NP_001341297.1:n.*1026T>C | |
| NM_001354369.1:c.2281-7T>C | NP_001341298.1:n.2281-7T>C | |
| NM_001354370.1:c.2020-7T>C | NP_001341299.1:n.2020-7T>C | |
| XM_006716303.3:c.2293-7T>C | XP_006716366.1:n.2293-7T>C | |
| XM_006716310.3:c.2026-7T>C | XP_006716373.1:n.2026-7T>C | |
| XM_006716312.2:c.2026-7T>C | XP_006716375.1:n.2026-7T>C | |
| XM_006716314.2:c.2020-7T>C | XP_006716377.1:n.2020-7T>C | |
| XM_011544443.2:c.2392-7T>C | XP_011542745.1:n.2392-7T>C | |
| XM_011544445.2:c.2386-7T>C | XP_011542747.1:n.2386-7T>C | |
| XM_011544446.2:c.*1026T>C | XP_011542748.1:n.*1026T>C | |
| XM_011544447.2:c.*1026T>C | XP_011542749.1:n.*1026T>C | |
| XM_011544450.2:c.*1026T>C | XP_011542752.1:n.*1026T>C | |
| XM_017013219.1:c.2380-7T>C | XP_016868708.1:n.2380-7T>C | |
| XM_017013220.1:c.*1026T>C | XP_016868709.1:n.*1026T>C | |
| XM_017013221.1:c.2293-7T>C | XP_016868710.1:n.2293-7T>C | |
| XM_017013222.2:c.2287-7T>C | XP_016868711.1:n.2287-7T>C | |
| XM_017013224.2:c.*1026T>C | XP_016868713.1:n.*1026T>C | |
| XM_017013225.2:c.*1026T>C | XP_016868714.1:n.*1026T>C | |
| XM_017013226.1:c.*1026T>C | XP_016868715.1:n.*1026T>C | |
| XM_017013227.1:c.*1026T>C | XP_016868716.1:n.*1026T>C | |
| XM_017013229.2:c.1321-7T>C | XP_016868718.1:n.1321-7T>C | |
| XM_017013230.1:c.*1026T>C | XP_016868719.1:n.*1026T>C | |
| XM_024447097.1:c.2269-7T>C | XP_024302865.1:n.2269-7T>C | |
| XR_001745496.1:n.2566-7T>C | ||
| NM_001174063.2:c.*1026T>C | NP_001167534.1:n.*1026T>C | |
| NM_001174064.2:c.*1026T>C | NP_001167535.1:n.*1026T>C | |
| NM_001174065.2:c.*1026T>C | NP_001167536.1:n.*1026T>C | |
| NM_001174066.2:c.*1026T>C | NP_001167537.1:n.*1026T>C | |
| NM_001354368.2:c.*1026T>C | NP_001341297.1:n.*1026T>C | |
| NM_015850.4:c.*1026T>C | NP_056934.2:n.*1026T>C | |
| NM_023105.3:c.*1026T>C | NP_075593.1:n.*1026T>C | |
| NM_023106.3:c.*1026T>C | NP_075594.1:n.*1026T>C | |
| NM_023110.3:c.*1026T>C MANE Select | NP_075598.2:n.*1026T>C | |
| NM_001174067.2:c.*1026T>C | NP_001167538.1:n.*1026T>C | |
| NM_001354367.2:c.2287-7T>C | NP_001341296.1:n.2287-7T>C | |
| NM_001354369.2:c.2281-7T>C | NP_001341298.1:n.2281-7T>C | |
| NM_001354370.2:c.2020-7T>C | NP_001341299.1:n.2020-7T>C |