Linked Data
ClinVar Variation Id:
434645
dbSNP Id:
rs142596662
ExAC:
9:123210372 T / A
gnomAD v2:
9-123210372-T-A
gnomAD v3:
9-120448094-T-A
gnomAD v4:
9-120448094-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120448094T>A , CM000671.2:g.120448094T>A | GRCh38 |
| NC_000009.11:g.123210372T>A , CM000671.1:g.123210372T>A | GRCh37 |
| NC_000009.10:g.122250193T>A | NCBI36 |
| NG_008999.1:g.137066A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360822.8:c.2136A>T | ENSP00000354065.4:p.Ile712= | |
| ENST00000416449.6:c.2730A>T | ENSP00000400395.2:p.Ile910= | |
| ENST00000479584.2:n.1073A>T | ||
| ENST00000684780.1:n.3116A>T | ||
| ENST00000685866.1:c.*653A>T | ENSP00000509484.1:n.*653A>T | |
| ENST00000686376.1:c.2906A>T | ENSP00000510021.1:n.2906A>T | |
| ENST00000686842.1:n.2933-4352A>T | ||
| ENST00000687279.1:c.2823A>T | ENSP00000508692.1:p.Ile941= | |
| ENST00000687311.1:n.2789A>T | ||
| ENST00000687633.1:c.2727A>T | ENSP00000510289.1:p.Ile909= | |
| ENST00000688923.1:n.2198A>T | ||
| ENST00000689688.1:c.2826A>T | ENSP00000510155.1:p.Ile942= | |
| ENST00000690646.1:c.2730A>T | ENSP00000510383.1:p.Ile910= | |
| ENST00000690814.1:c.*2A>T | ENSP00000508792.1:n.*2A>T | |
| ENST00000691504.1:n.2720A>T | ||
| ENST00000692155.1:c.2906A>T | ENSP00000510290.1:n.2906A>T | |
| ENST00000692746.1:n.2933-4352A>T | ||
| ENST00000693386.1:c.2730A>T | ENSP00000510003.1:p.Ile910= | |
| ENST00000693433.1:n.2720A>T | ||
| ENST00000693714.1:n.2773A>T | ||
| ENST00000693728.1:c.2730A>T | ENSP00000510580.1:p.Ile910= | |
| ENST00000349780.9:c.2826A>T MANE Select | ENSP00000343818.4:p.Ile942= | |
| ENST00000349780.8:c.2826A>T | ENSP00000343818.4:p.Ile942= | |
| ENST00000360190.8:c.2826A>T | ENSP00000353317.4:p.Ile942= | |
| ENST00000360822.7:c.2136A>T | ENSP00000354065.4:p.Ile712= | |
| ENST00000416449.5:c.1008A>T | ENSP00000400395.1:p.Ile336= | |
| ENST00000473282.6:c.*1650A>T | ENSP00000419265.1:n.*1650A>T | |
| ENST00000479584.1:n.106A>T | ||
| ENST00000480112.5:c.*653A>T | ENSP00000418418.1:n.*653A>T | |
| ENST00000483412.5:n.2134A>T | ||
| NM_001011649.2:c.2826A>T | NP_001011649.1:p.Ile942= | |
| NM_001272039.1:c.2136A>T | NP_001258968.1:p.Ile712= | |
| NM_018249.5:c.2826A>T | NP_060719.4:p.Ile942= | |
| NR_073554.1:n.3095A>T | ||
| NR_073555.1:n.3018A>T | ||
| NR_073556.1:n.3225A>T | ||
| NR_073557.1:n.3098A>T | ||
| NR_073558.1:n.3095A>T | ||
| XM_006717182.1:c.2730A>T | XP_006717245.1:p.Ile910= | |
| XM_006717185.1:c.2139A>T | XP_006717248.1:p.Ile713= | |
| XM_011518860.1:c.2823A>T | XP_011517162.1:p.Ile941= | |
| XM_011518861.1:c.2823A>T | XP_011517163.1:p.Ile941= | |
| XM_017014921.1:c.2727A>T | XP_016870410.1:p.Ile909= | |
| XM_017014922.1:c.1992A>T | XP_016870411.1:p.Ile664= | |
| XM_017014923.1:c.2139A>T | XP_016870412.1:p.Ile713= | |
| XM_017014924.1:c.621A>T | XP_016870413.1:p.Ile207= | |
| XR_001746351.1:n.2589A>T | ||
| NM_018249.6:c.2826A>T MANE Select | NP_060719.4:p.Ile942= | |
| NM_001011649.3:c.2826A>T | NP_001011649.1:p.Ile942= | |
| NR_073554.2:n.3092A>T | ||
| NR_073555.2:n.3015A>T | ||
| NR_073556.2:n.3222A>T | ||
| NR_073557.2:n.3095A>T | ||
| NR_073558.2:n.3092A>T | ||
| NM_001272039.2:c.2136A>T | NP_001258968.1:p.Ile712= |