Linked Data
ClinVar Variation Id:
21652
dbSNP Id:
rs35909061
ExAC:
9:123170686 C / A
gnomAD v2:
9-123170686-C-A
gnomAD v3:
9-120408408-C-A
gnomAD v4:
9-120408408-C-A
PubMed:
PMID:20301772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120408408C>A , CM000671.2:g.120408408C>A | GRCh38 |
| NC_000009.11:g.123170686C>A , CM000671.1:g.123170686C>A | GRCh37 |
| NC_000009.10:g.122210507C>A | NCBI36 |
| NG_008999.1:g.176752G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360822.8:c.3975G>T | ENSP00000354065.4:p.Gln1325His | |
| ENST00000416449.6:c.4569G>T | ENSP00000400395.2:p.Gln1523His | |
| ENST00000479584.2:n.2912G>T | ||
| ENST00000684780.1:n.4955G>T | ||
| ENST00000685866.1:c.*2492G>T | ENSP00000509484.1:n.*2492G>T | |
| ENST00000686376.1:c.4745G>T | ENSP00000510021.1:n.4745G>T | |
| ENST00000686842.1:n.8219G>T | ||
| ENST00000687279.1:c.4662G>T | ENSP00000508692.1:p.Gln1554His | |
| ENST00000687311.1:n.4628G>T | ||
| ENST00000687633.1:c.4566G>T | ENSP00000510289.1:p.Gln1522His | |
| ENST00000688512.1:c.273G>T | ENSP00000508546.1:p.Gln91His | |
| ENST00000688923.1:n.4037G>T | ||
| ENST00000689012.1:n.1055G>T | ||
| ENST00000689688.1:c.4665G>T | ENSP00000510155.1:p.Gln1555His | |
| ENST00000690646.1:c.4569G>T | ENSP00000510383.1:p.Gln1523His | |
| ENST00000690814.1:c.*1841G>T | ENSP00000508792.1:n.*1841G>T | |
| ENST00000691504.1:n.4559G>T | ||
| ENST00000691551.1:c.834G>T | ||
| ENST00000692155.1:c.4745G>T | ENSP00000510290.1:n.4745G>T | |
| ENST00000692746.1:n.4572G>T | ||
| ENST00000693386.1:c.4510G>T | ENSP00000510003.1:n.4510G>T | |
| ENST00000693433.1:n.4559G>T | ||
| ENST00000693714.1:n.4612G>T | ||
| ENST00000693728.1:c.4569G>T | ENSP00000510580.1:p.Gln1523His | |
| ENST00000349780.9:c.4665G>T MANE Select | ENSP00000343818.4:p.Gln1555His | |
| ENST00000349780.8:c.4665G>T | ENSP00000343818.4:p.Gln1555His | |
| ENST00000360190.8:c.4665G>T | ENSP00000353317.4:p.Gln1555His | |
| ENST00000360822.7:c.3975G>T | ENSP00000354065.4:p.Gln1325His | |
| ENST00000416449.5:c.2847G>T | ENSP00000400395.1:p.Gln949His | |
| ENST00000425647.1:c.1695G>T | ENSP00000409941.1:p.Gln565His | |
| ENST00000473282.6:c.*3489G>T | ENSP00000419265.1:n.*3489G>T | |
| ENST00000480112.5:c.*2492G>T | ENSP00000418418.1:n.*2492G>T | |
| ENST00000483412.5:n.3973G>T | ||
| NM_001011649.2:c.4665G>T | NP_001011649.1:p.Gln1555His | |
| NM_001272039.1:c.3975G>T | NP_001258968.1:p.Gln1325His | |
| NM_018249.5:c.4665G>T | NP_060719.4:p.Gln1555His | |
| NR_073554.1:n.4934G>T | ||
| NR_073555.1:n.4857G>T | ||
| NR_073556.1:n.5064G>T | ||
| NR_073557.1:n.4937G>T | ||
| NR_073558.1:n.4934G>T | ||
| XM_006717182.1:c.4569G>T | XP_006717245.1:p.Gln1523His | |
| XM_006717185.1:c.3978G>T | XP_006717248.1:p.Gln1326His | |
| XM_011518860.1:c.4662G>T | XP_011517162.1:p.Gln1554His | |
| XM_011518861.1:c.4662G>T | XP_011517163.1:p.Gln1554His | |
| XM_017014921.1:c.4566G>T | XP_016870410.1:p.Gln1522His | |
| XM_017014922.1:c.3831G>T | XP_016870411.1:p.Gln1277His | |
| XM_017014923.1:c.3978G>T | XP_016870412.1:p.Gln1326His | |
| XM_017014924.1:c.2460G>T | XP_016870413.1:p.Gln820His | |
| NM_018249.6:c.4665G>T MANE Select | NP_060719.4:p.Gln1555His | |
| NM_001011649.3:c.4665G>T | NP_001011649.1:p.Gln1555His | |
| NR_073554.2:n.4931G>T | ||
| NR_073555.2:n.4854G>T | ||
| NR_073556.2:n.5061G>T | ||
| NR_073557.2:n.4934G>T | ||
| NR_073558.2:n.4931G>T | ||
| NM_001272039.2:c.3975G>T | NP_001258968.1:p.Gln1325His |