Linked Data
ClinVar Variation Id:
426906
ClinVar RCV Id:
RCV000489586
dbSNP Id:
rs1085307850
gnomAD v3:
9-120439459-A-G
gnomAD v4:
9-120439459-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120439459A>G , CM000671.2:g.120439459A>G | GRCh38 |
| NC_000009.11:g.123201737A>G , CM000671.1:g.123201737A>G | GRCh37 |
| NC_000009.10:g.122241558A>G | NCBI36 |
| NG_008999.1:g.145701T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360822.8:c.2972T>C | ENSP00000354065.4:p.Met991Thr | |
| ENST00000416449.6:c.3566T>C | ENSP00000400395.2:p.Met1189Thr | |
| ENST00000479584.2:n.1909T>C | ||
| ENST00000684780.1:n.3952T>C | ||
| ENST00000685866.1:c.*1489T>C | ENSP00000509484.1:n.*1489T>C | |
| ENST00000686376.1:c.3742T>C | ENSP00000510021.1:n.3742T>C | |
| ENST00000686842.1:n.7216T>C | ||
| ENST00000687279.1:c.3659T>C | ENSP00000508692.1:p.Met1220Thr | |
| ENST00000687311.1:n.3625T>C | ||
| ENST00000687633.1:c.3563T>C | ENSP00000510289.1:p.Met1188Thr | |
| ENST00000688923.1:n.3034T>C | ||
| ENST00000689688.1:c.3662T>C | ENSP00000510155.1:p.Met1221Thr | |
| ENST00000690646.1:c.3566T>C | ENSP00000510383.1:p.Met1189Thr | |
| ENST00000690814.1:c.*838T>C | ENSP00000508792.1:n.*838T>C | |
| ENST00000691504.1:n.3556T>C | ||
| ENST00000692155.1:c.3742T>C | ENSP00000510290.1:n.3742T>C | |
| ENST00000692746.1:n.3569T>C | ||
| ENST00000693386.1:c.3566T>C | ENSP00000510003.1:p.Met1189Thr | |
| ENST00000693433.1:n.3556T>C | ||
| ENST00000693714.1:n.3609T>C | ||
| ENST00000693728.1:c.3566T>C | ENSP00000510580.1:p.Met1189Thr | |
| ENST00000349780.9:c.3662T>C MANE Select | ENSP00000343818.4:p.Met1221Thr | |
| ENST00000349780.8:c.3662T>C | ENSP00000343818.4:p.Met1221Thr | |
| ENST00000360190.8:c.3662T>C | ENSP00000353317.4:p.Met1221Thr | |
| ENST00000360822.7:c.2972T>C | ENSP00000354065.4:p.Met991Thr | |
| ENST00000416449.5:c.1844T>C | ENSP00000400395.1:p.Met615Thr | |
| ENST00000425647.1:c.692T>C | ENSP00000409941.1:p.Met231Thr | |
| ENST00000473282.6:c.*2486T>C | ENSP00000419265.1:n.*2486T>C | |
| ENST00000480112.5:c.*1489T>C | ENSP00000418418.1:n.*1489T>C | |
| ENST00000483412.5:n.2970T>C | ||
| NM_001011649.2:c.3662T>C | NP_001011649.1:p.Met1221Thr | |
| NM_001272039.1:c.2972T>C | NP_001258968.1:p.Met991Thr | |
| NM_018249.5:c.3662T>C | NP_060719.4:p.Met1221Thr | |
| NR_073554.1:n.3931T>C | ||
| NR_073555.1:n.3854T>C | ||
| NR_073556.1:n.4061T>C | ||
| NR_073557.1:n.3934T>C | ||
| NR_073558.1:n.3931T>C | ||
| XM_006717182.1:c.3566T>C | XP_006717245.1:p.Met1189Thr | |
| XM_006717185.1:c.2975T>C | XP_006717248.1:p.Met992Thr | |
| XM_011518860.1:c.3659T>C | XP_011517162.1:p.Met1220Thr | |
| XM_011518861.1:c.3659T>C | XP_011517163.1:p.Met1220Thr | |
| XM_017014921.1:c.3563T>C | XP_016870410.1:p.Met1188Thr | |
| XM_017014922.1:c.2828T>C | XP_016870411.1:p.Met943Thr | |
| XM_017014923.1:c.2975T>C | XP_016870412.1:p.Met992Thr | |
| XM_017014924.1:c.1457T>C | XP_016870413.1:p.Met486Thr | |
| NM_018249.6:c.3662T>C MANE Select | NP_060719.4:p.Met1221Thr | |
| NM_001011649.3:c.3662T>C | NP_001011649.1:p.Met1221Thr | |
| NR_073554.2:n.3928T>C | ||
| NR_073555.2:n.3851T>C | ||
| NR_073556.2:n.4058T>C | ||
| NR_073557.2:n.3931T>C | ||
| NR_073558.2:n.3928T>C | ||
| NM_001272039.2:c.2972T>C | NP_001258968.1:p.Met991Thr |