Linked Data
dbSNP Id:
rs139851222
ExAC:
9:123201784 C / A
gnomAD v2:
9-123201784-C-A
gnomAD v3:
9-120439506-C-A
gnomAD v4:
9-120439506-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120439506C>A , CM000671.2:g.120439506C>A | GRCh38 |
| NC_000009.11:g.123201784C>A , CM000671.1:g.123201784C>A | GRCh37 |
| NC_000009.10:g.122241605C>A | NCBI36 |
| NG_008999.1:g.145654G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360822.8:c.2925G>T | ENSP00000354065.4:p.Gln975His | |
| ENST00000416449.6:c.3519G>T | ENSP00000400395.2:p.Gln1173His | |
| ENST00000479584.2:n.1862G>T | ||
| ENST00000684780.1:n.3905G>T | ||
| ENST00000685866.1:c.*1442G>T | ENSP00000509484.1:n.*1442G>T | |
| ENST00000686376.1:c.3695G>T | ENSP00000510021.1:n.3695G>T | |
| ENST00000686842.1:n.7169G>T | ||
| ENST00000687279.1:c.3612G>T | ENSP00000508692.1:p.Gln1204His | |
| ENST00000687311.1:n.3578G>T | ||
| ENST00000687633.1:c.3516G>T | ENSP00000510289.1:p.Gln1172His | |
| ENST00000688923.1:n.2987G>T | ||
| ENST00000689688.1:c.3615G>T | ENSP00000510155.1:p.Gln1205His | |
| ENST00000690646.1:c.3519G>T | ENSP00000510383.1:p.Gln1173His | |
| ENST00000690814.1:c.*791G>T | ENSP00000508792.1:n.*791G>T | |
| ENST00000691504.1:n.3509G>T | ||
| ENST00000692155.1:c.3695G>T | ENSP00000510290.1:n.3695G>T | |
| ENST00000692746.1:n.3522G>T | ||
| ENST00000693386.1:c.3519G>T | ENSP00000510003.1:p.Gln1173His | |
| ENST00000693433.1:n.3509G>T | ||
| ENST00000693714.1:n.3562G>T | ||
| ENST00000693728.1:c.3519G>T | ENSP00000510580.1:p.Gln1173His | |
| ENST00000349780.9:c.3615G>T MANE Select | ENSP00000343818.4:p.Gln1205His | |
| ENST00000349780.8:c.3615G>T | ENSP00000343818.4:p.Gln1205His | |
| ENST00000360190.8:c.3615G>T | ENSP00000353317.4:p.Gln1205His | |
| ENST00000360822.7:c.2925G>T | ENSP00000354065.4:p.Gln975His | |
| ENST00000416449.5:c.1797G>T | ENSP00000400395.1:p.Gln599His | |
| ENST00000425647.1:c.645G>T | ENSP00000409941.1:p.Gln215His | |
| ENST00000473282.6:c.*2439G>T | ENSP00000419265.1:n.*2439G>T | |
| ENST00000480112.5:c.*1442G>T | ENSP00000418418.1:n.*1442G>T | |
| ENST00000483412.5:n.2923G>T | ||
| NM_001011649.2:c.3615G>T | NP_001011649.1:p.Gln1205His | |
| NM_001272039.1:c.2925G>T | NP_001258968.1:p.Gln975His | |
| NM_018249.5:c.3615G>T | NP_060719.4:p.Gln1205His | |
| NR_073554.1:n.3884G>T | ||
| NR_073555.1:n.3807G>T | ||
| NR_073556.1:n.4014G>T | ||
| NR_073557.1:n.3887G>T | ||
| NR_073558.1:n.3884G>T | ||
| XM_006717182.1:c.3519G>T | XP_006717245.1:p.Gln1173His | |
| XM_006717185.1:c.2928G>T | XP_006717248.1:p.Gln976His | |
| XM_011518860.1:c.3612G>T | XP_011517162.1:p.Gln1204His | |
| XM_011518861.1:c.3612G>T | XP_011517163.1:p.Gln1204His | |
| XM_017014921.1:c.3516G>T | XP_016870410.1:p.Gln1172His | |
| XM_017014922.1:c.2781G>T | XP_016870411.1:p.Gln927His | |
| XM_017014923.1:c.2928G>T | XP_016870412.1:p.Gln976His | |
| XM_017014924.1:c.1410G>T | XP_016870413.1:p.Gln470His | |
| NM_018249.6:c.3615G>T MANE Select | NP_060719.4:p.Gln1205His | |
| NM_001011649.3:c.3615G>T | NP_001011649.1:p.Gln1205His | |
| NR_073554.2:n.3881G>T | ||
| NR_073555.2:n.3804G>T | ||
| NR_073556.2:n.4011G>T | ||
| NR_073557.2:n.3884G>T | ||
| NR_073558.2:n.3881G>T | ||
| NM_001272039.2:c.2925G>T | NP_001258968.1:p.Gln975His |