Linked Data
ClinVar Variation Id:
210634
dbSNP Id:
rs137966123
ExAC:
9:123230241 T / C
gnomAD v2:
9-123230241-T-C
gnomAD v3:
9-120467963-T-C
gnomAD v4:
9-120467963-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120467963T>C , CM000671.2:g.120467963T>C | GRCh38 |
| NC_000009.11:g.123230241T>C , CM000671.1:g.123230241T>C | GRCh37 |
| NC_000009.10:g.122270062T>C | NCBI36 |
| NG_008999.1:g.117197A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360822.8:c.2000A>G | ENSP00000354065.4:p.Tyr667Cys | |
| ENST00000416449.6:c.2003A>G | ENSP00000400395.2:p.Tyr668Cys | |
| ENST00000479584.2:n.346A>G | ||
| ENST00000684780.1:n.2213A>G | ||
| ENST00000685866.1:c.2000A>G | ENSP00000509484.1:p.Tyr667Cys | |
| ENST00000686376.1:c.2003A>G | ENSP00000510021.1:p.Tyr668Cys | |
| ENST00000686842.1:n.2062A>G | ||
| ENST00000687279.1:c.2000A>G | ENSP00000508692.1:p.Tyr667Cys | |
| ENST00000687311.1:n.2062A>G | ||
| ENST00000687633.1:c.2000A>G | ENSP00000510289.1:p.Tyr667Cys | |
| ENST00000688923.1:n.2062A>G | ||
| ENST00000689688.1:c.2003A>G | ENSP00000510155.1:p.Tyr668Cys | |
| ENST00000690474.1:n.2048A>G | ||
| ENST00000690646.1:c.2003A>G | ENSP00000510383.1:p.Tyr668Cys | |
| ENST00000690814.1:c.2000A>G | ENSP00000508792.1:p.Tyr667Cys | |
| ENST00000691504.1:n.1993A>G | ||
| ENST00000692155.1:c.2003A>G | ENSP00000510290.1:p.Tyr668Cys | |
| ENST00000692746.1:n.2062A>G | ||
| ENST00000693386.1:c.2003A>G | ENSP00000510003.1:p.Tyr668Cys | |
| ENST00000693433.1:n.1993A>G | ||
| ENST00000693714.1:n.2046A>G | ||
| ENST00000693728.1:c.2003A>G | ENSP00000510580.1:p.Tyr668Cys | |
| ENST00000349780.9:c.2003A>G MANE Select | ENSP00000343818.4:p.Tyr668Cys | |
| ENST00000349780.8:c.2003A>G | ENSP00000343818.4:p.Tyr668Cys | |
| ENST00000360190.8:c.2003A>G | ENSP00000353317.4:p.Tyr668Cys | |
| ENST00000360822.7:c.2000A>G | ENSP00000354065.4:p.Tyr667Cys | |
| ENST00000416449.5:c.281A>G | ENSP00000400395.1:p.Tyr94Cys | |
| ENST00000473282.6:c.*747A>G | ENSP00000419265.1:n.*747A>G | |
| ENST00000480112.5:c.2000A>G | ENSP00000418418.1:p.Tyr667Cys | |
| ENST00000483412.5:n.1407A>G | ||
| NM_001011649.2:c.2003A>G | NP_001011649.1:p.Tyr668Cys | |
| NM_001272039.1:c.2000A>G | NP_001258968.1:p.Tyr667Cys | |
| NM_018249.5:c.2003A>G | NP_060719.4:p.Tyr668Cys | |
| NR_073554.1:n.2192A>G | ||
| NR_073555.1:n.2195A>G | ||
| NR_073556.1:n.2322A>G | ||
| NR_073557.1:n.2195A>G | ||
| NR_073558.1:n.2192A>G | ||
| XM_006717182.1:c.2003A>G | XP_006717245.1:p.Tyr668Cys | |
| XM_006717185.1:c.2003A>G | XP_006717248.1:p.Tyr668Cys | |
| XM_011518860.1:c.2000A>G | XP_011517162.1:p.Tyr667Cys | |
| XM_011518861.1:c.2000A>G | XP_011517163.1:p.Tyr667Cys | |
| XM_017014921.1:c.2000A>G | XP_016870410.1:p.Tyr667Cys | |
| XM_017014922.1:c.1169A>G | XP_016870411.1:p.Tyr390Cys | |
| XM_017014923.1:c.2003A>G | XP_016870412.1:p.Tyr668Cys | |
| XM_017014924.1:c.-283A>G | XP_016870413.1:n.-283A>G | |
| XR_001746351.1:n.2184A>G | ||
| NM_018249.6:c.2003A>G MANE Select | NP_060719.4:p.Tyr668Cys | |
| NM_001011649.3:c.2003A>G | NP_001011649.1:p.Tyr668Cys | |
| NR_073554.2:n.2189A>G | ||
| NR_073555.2:n.2192A>G | ||
| NR_073556.2:n.2319A>G | ||
| NR_073557.2:n.2192A>G | ||
| NR_073558.2:n.2189A>G | ||
| NM_001272039.2:c.2000A>G | NP_001258968.1:p.Tyr667Cys |