Linked Data
dbSNP Id:
rs1286015047
gnomAD v2:
9-134398738-A-G
gnomAD v3:
9-131523351-A-G
gnomAD v4:
9-131523351-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131523351A>G , CM000671.2:g.131523351A>G | GRCh38 |
| NC_000009.11:g.134398738A>G , CM000671.1:g.134398738A>G | GRCh37 |
| NC_000009.10:g.133388559A>G | NCBI36 |
| NG_008896.1:g.25450A>G | |
| NG_008896.2:g.25450A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.*245A>G | ENSP00000343034.7:n.*245A>G | |
| ENST00000404875.7:n.2963A>G | ||
| ENST00000677295.2:c.*2767A>G | ENSP00000504346.2:n.*2767A>G | |
| ENST00000678264.2:c.*2606A>G | ENSP00000503157.2:n.*2606A>G | |
| ENST00000682070.1:n.2733A>G | ||
| ENST00000682639.1:c.240-112A>G | ||
| ENST00000682813.1:n.2820A>G | ||
| ENST00000683231.1:c.273A>G | ||
| ENST00000683392.1:n.5015A>G | ||
| ENST00000683900.1:n.4323A>G | ||
| ENST00000684062.1:n.3089A>G | ||
| ENST00000684399.1:c.240-2A>G | ||
| ENST00000684579.1:n.4269A>G | ||
| ENST00000341012.12:c.*245A>G | ENSP00000343034.7:n.*245A>G | |
| ENST00000372220.5:c.*245A>G | ENSP00000361294.5:n.*245A>G | |
| ENST00000372228.9:c.*245A>G | ENSP00000361302.3:n.*245A>G | |
| ENST00000402686.8:c.*245A>G MANE Select | ENSP00000385797.4:n.*245A>G | |
| ENST00000676640.1:c.*245A>G | ENSP00000503281.1:n.*245A>G | |
| ENST00000676803.1:c.*245A>G | ENSP00000503093.1:n.*245A>G | |
| ENST00000676835.1:c.*1638A>G | ENSP00000502911.1:n.*1638A>G | |
| ENST00000677029.1:c.*245A>G | ENSP00000502936.1:n.*245A>G | |
| ENST00000677099.1:c.*2133A>G | ENSP00000504553.1:n.*2133A>G | |
| ENST00000677216.1:c.*245A>G | ENSP00000503772.1:n.*245A>G | |
| ENST00000677295.1:c.*1645A>G | ENSP00000504346.1:n.*1645A>G | |
| ENST00000677444.1:c.2368A>G | ||
| ENST00000677626.1:c.*245A>G | ENSP00000503552.1:n.*245A>G | |
| ENST00000677853.1:c.*1431A>G | ENSP00000503488.1:n.*1431A>G | |
| ENST00000678303.1:c.*245A>G | ENSP00000503696.1:n.*245A>G | |
| ENST00000678366.1:c.*2672A>G | ENSP00000504353.1:n.*2672A>G | |
| ENST00000678546.1:c.*2368A>G | ENSP00000503062.1:n.*2368A>G | |
| ENST00000678548.1:c.*2562A>G | ENSP00000503934.1:n.*2562A>G | |
| ENST00000678626.1:n.2259A>G | ||
| ENST00000678739.1:c.*2589A>G | ENSP00000503806.1:n.*2589A>G | |
| ENST00000678833.1:c.*2175A>G | ENSP00000503893.1:n.*2175A>G | |
| ENST00000679023.1:c.*69A>G | ENSP00000503718.1:n.*69A>G | |
| ENST00000679076.1:c.2042A>G | ||
| ENST00000679111.1:c.*1179A>G | ENSP00000504257.1:n.*1179A>G | |
| ENST00000341012.11:c.*245A>G | ENSP00000343034.7:n.*245A>G | |
| ENST00000372220.4:c.1286A>G | ENSP00000361294.4:n.1286A>G | |
| ENST00000372228.7:c.*245A>G | ENSP00000361302.3:n.*245A>G | |
| ENST00000402686.7:c.*245A>G | ENSP00000385797.3:n.*245A>G | |
| ENST00000404875.6:c.*245A>G | ENSP00000384531.2:n.*245A>G | |
| ENST00000423007.5:c.*245A>G | ENSP00000404119.1:n.*245A>G | |
| ENST00000485278.5:n.2973A>G | ||
| NM_001077365.1:c.*245A>G | NP_001070833.1:n.*245A>G | |
| NM_001077366.1:c.*245A>G | NP_001070834.1:n.*245A>G | |
| NM_001136113.1:c.*245A>G | NP_001129585.1:n.*245A>G | |
| NM_001136114.1:c.*245A>G | NP_001129586.1:n.*245A>G | |
| NM_007171.3:c.*245A>G | NP_009102.3:n.*245A>G | |
| XM_005272156.1:c.*245A>G | XP_005272213.1:n.*245A>G | |
| XM_005272158.1:c.*245A>G | XP_005272215.1:n.*245A>G | |
| XM_005272159.1:c.*245A>G | XP_005272216.1:n.*245A>G | |
| XM_005272162.1:c.*245A>G | XP_005272219.1:n.*245A>G | |
| XM_006716932.1:c.*245A>G | XP_006716995.1:n.*245A>G | |
| XM_011518140.1:c.*245A>G | XP_011516442.1:n.*245A>G | |
| XM_011518141.1:c.*245A>G | XP_011516443.1:n.*245A>G | |
| XM_011518142.1:c.*245A>G | XP_011516444.1:n.*245A>G | |
| XM_011518143.1:c.*245A>G | XP_011516445.1:n.*245A>G | |
| XM_011518145.1:c.*245A>G | XP_011516447.1:n.*245A>G | |
| XM_011518147.1:c.*245A>G | XP_011516449.1:n.*245A>G | |
| XR_929703.1:n.2489A>G | ||
| NM_001353193.1:c.*245A>G | NP_001340122.1:n.*245A>G | |
| NM_001353194.1:c.*245A>G | NP_001340123.1:n.*245A>G | |
| NM_001353195.1:c.*245A>G | NP_001340124.1:n.*245A>G | |
| NM_001353196.1:c.*245A>G | NP_001340125.1:n.*245A>G | |
| NM_001353197.1:c.*245A>G | NP_001340126.1:n.*245A>G | |
| NM_001353198.1:c.*245A>G | NP_001340127.1:n.*245A>G | |
| NM_001353199.1:c.*245A>G | NP_001340128.1:n.*245A>G | |
| NM_001353200.1:c.*245A>G | NP_001340129.1:n.*245A>G | |
| NR_148391.1:n.2297A>G | ||
| NR_148392.1:n.2515A>G | ||
| NR_148393.1:n.2612A>G | ||
| NR_148394.1:n.2366A>G | ||
| NR_148395.1:n.2764A>G | ||
| NR_148396.1:n.2398A>G | ||
| NR_148397.1:n.2523A>G | ||
| NR_148398.1:n.2478A>G | ||
| NR_148399.1:n.2828A>G | ||
| NR_148400.1:n.2603A>G | ||
| XM_005272162.3:c.*245A>G | XP_005272219.1:n.*245A>G | |
| XM_006716932.2:c.*245A>G | XP_006716995.1:n.*245A>G | |
| XM_011518140.2:c.*245A>G | XP_011516442.1:n.*245A>G | |
| XM_011518141.2:c.*245A>G | XP_011516443.1:n.*245A>G | |
| XM_011518142.2:c.*245A>G | XP_011516444.1:n.*245A>G | |
| XM_011518143.2:c.*245A>G | XP_011516445.1:n.*245A>G | |
| XM_011518145.2:c.*245A>G | XP_011516447.1:n.*245A>G | |
| XM_017014205.2:c.*245A>G | XP_016869694.1:n.*245A>G | |
| XM_024447380.1:c.*245A>G | XP_024303148.1:n.*245A>G | |
| XM_024447381.1:c.*245A>G | XP_024303149.1:n.*245A>G | |
| XM_024447382.1:c.*245A>G | XP_024303150.1:n.*245A>G | |
| XR_001746160.2:n.2417A>G | ||
| XR_001746162.2:n.2798A>G | ||
| XR_001746164.1:n.2515A>G | ||
| XR_001746166.2:n.2634A>G | ||
| NM_001077365.2:c.*245A>G MANE Select | NP_001070833.1:n.*245A>G | |
| NM_001077366.2:c.*245A>G | NP_001070834.1:n.*245A>G | |
| NM_001136113.2:c.*245A>G | NP_001129585.1:n.*245A>G | |
| NM_001136114.2:c.*245A>G | NP_001129586.1:n.*245A>G | |
| NM_001353193.2:c.*245A>G | NP_001340122.2:n.*245A>G | |
| NM_001353194.2:c.*245A>G | NP_001340123.1:n.*245A>G | |
| NM_001353195.2:c.*245A>G | NP_001340124.1:n.*245A>G | |
| NM_001353196.2:c.*245A>G | NP_001340125.1:n.*245A>G | |
| NM_001353197.2:c.*245A>G | NP_001340126.2:n.*245A>G | |
| NM_001353198.2:c.*245A>G | NP_001340127.2:n.*245A>G | |
| NM_001353199.2:c.*245A>G | NP_001340128.2:n.*245A>G | |
| NM_001353200.2:c.*245A>G | NP_001340129.1:n.*245A>G | |
| NM_001374689.1:c.*245A>G | NP_001361618.1:n.*245A>G | |
| NM_001374690.1:c.*245A>G | NP_001361619.1:n.*245A>G | |
| NM_001374691.1:c.*245A>G | NP_001361620.1:n.*245A>G | |
| NM_001374692.1:c.*245A>G | NP_001361621.1:n.*245A>G | |
| NM_001374693.1:c.*245A>G | NP_001361622.1:n.*245A>G | |
| NM_001374695.1:c.*245A>G | NP_001361624.1:n.*245A>G | |
| NM_007171.4:c.*245A>G | NP_009102.4:n.*245A>G | |
| NR_148391.2:n.2281A>G | ||
| NR_148392.2:n.2499A>G | ||
| NR_148393.2:n.2596A>G | ||
| NR_148394.2:n.2350A>G | ||
| NR_148395.2:n.2748A>G | ||
| NR_148396.2:n.2382A>G | ||
| NR_148397.2:n.2507A>G | ||
| NR_148398.2:n.2462A>G | ||
| NR_148399.2:n.2812A>G | ||
| NR_148400.2:n.2587A>G |