Linked Data
ClinVar Variation Id:
419774
ClinVar RCV Id:
RCV000487379
dbSNP Id:
rs777532975
ExAC:
9:123199758 C / T
gnomAD v2:
9-123199758-C-T
gnomAD v3:
9-120437480-C-T
gnomAD v4:
9-120437480-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120437480C>T , CM000671.2:g.120437480C>T | GRCh38 |
| NC_000009.11:g.123199758C>T , CM000671.1:g.123199758C>T | GRCh37 |
| NC_000009.10:g.122239579C>T | NCBI36 |
| NG_008999.1:g.147680G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360822.8:c.3080G>A | ENSP00000354065.4:p.Arg1027Gln | |
| ENST00000416449.6:c.3674G>A | ENSP00000400395.2:p.Arg1225Gln | |
| ENST00000479584.2:n.2017G>A | ||
| ENST00000684780.1:n.4060G>A | ||
| ENST00000685866.1:c.*1597G>A | ENSP00000509484.1:n.*1597G>A | |
| ENST00000686376.1:c.3850G>A | ENSP00000510021.1:n.3850G>A | |
| ENST00000686842.1:n.7324G>A | ||
| ENST00000687279.1:c.3767G>A | ENSP00000508692.1:p.Arg1256Gln | |
| ENST00000687311.1:n.3733G>A | ||
| ENST00000687633.1:c.3671G>A | ENSP00000510289.1:p.Arg1224Gln | |
| ENST00000688923.1:n.3142G>A | ||
| ENST00000689688.1:c.3770G>A | ENSP00000510155.1:p.Arg1257Gln | |
| ENST00000690646.1:c.3674G>A | ENSP00000510383.1:p.Arg1225Gln | |
| ENST00000690814.1:c.*946G>A | ENSP00000508792.1:n.*946G>A | |
| ENST00000691504.1:n.3664G>A | ||
| ENST00000692155.1:c.3850G>A | ENSP00000510290.1:n.3850G>A | |
| ENST00000692746.1:n.3677G>A | ||
| ENST00000693386.1:c.3674G>A | ENSP00000510003.1:p.Arg1225Gln | |
| ENST00000693433.1:n.3664G>A | ||
| ENST00000693714.1:n.3717G>A | ||
| ENST00000693728.1:c.3674G>A | ENSP00000510580.1:p.Arg1225Gln | |
| ENST00000349780.9:c.3770G>A MANE Select | ENSP00000343818.4:p.Arg1257Gln | |
| ENST00000349780.8:c.3770G>A | ENSP00000343818.4:p.Arg1257Gln | |
| ENST00000360190.8:c.3770G>A | ENSP00000353317.4:p.Arg1257Gln | |
| ENST00000360822.7:c.3080G>A | ENSP00000354065.4:p.Arg1027Gln | |
| ENST00000416449.5:c.1952G>A | ENSP00000400395.1:p.Arg651Gln | |
| ENST00000425647.1:c.800G>A | ENSP00000409941.1:p.Arg267Gln | |
| ENST00000473282.6:c.*2594G>A | ENSP00000419265.1:n.*2594G>A | |
| ENST00000480112.5:c.*1597G>A | ENSP00000418418.1:n.*1597G>A | |
| ENST00000483412.5:n.3078G>A | ||
| NM_001011649.2:c.3770G>A | NP_001011649.1:p.Arg1257Gln | |
| NM_001272039.1:c.3080G>A | NP_001258968.1:p.Arg1027Gln | |
| NM_018249.5:c.3770G>A | NP_060719.4:p.Arg1257Gln | |
| NR_073554.1:n.4039G>A | ||
| NR_073555.1:n.3962G>A | ||
| NR_073556.1:n.4169G>A | ||
| NR_073557.1:n.4042G>A | ||
| NR_073558.1:n.4039G>A | ||
| XM_006717182.1:c.3674G>A | XP_006717245.1:p.Arg1225Gln | |
| XM_006717185.1:c.3083G>A | XP_006717248.1:p.Arg1028Gln | |
| XM_011518860.1:c.3767G>A | XP_011517162.1:p.Arg1256Gln | |
| XM_011518861.1:c.3767G>A | XP_011517163.1:p.Arg1256Gln | |
| XM_017014921.1:c.3671G>A | XP_016870410.1:p.Arg1224Gln | |
| XM_017014922.1:c.2936G>A | XP_016870411.1:p.Arg979Gln | |
| XM_017014923.1:c.3083G>A | XP_016870412.1:p.Arg1028Gln | |
| XM_017014924.1:c.1565G>A | XP_016870413.1:p.Arg522Gln | |
| NM_018249.6:c.3770G>A MANE Select | NP_060719.4:p.Arg1257Gln | |
| NM_001011649.3:c.3770G>A | NP_001011649.1:p.Arg1257Gln | |
| NR_073554.2:n.4036G>A | ||
| NR_073555.2:n.3959G>A | ||
| NR_073556.2:n.4166G>A | ||
| NR_073557.2:n.4039G>A | ||
| NR_073558.2:n.4036G>A | ||
| NM_001272039.2:c.3080G>A | NP_001258968.1:p.Arg1027Gln |