UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
dbSNP Id:
rs1921045
gnomAD v2:
12-81714932-A-G
gnomAD v3:
12-81321153-A-G
gnomAD v4:
12-81321153-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.81321153A>G , CM000674.2:g.81321153A>G | GRCh38 |
| NC_000012.11:g.81714932A>G , CM000674.1:g.81714932A>G | GRCh37 |
| NC_000012.10:g.80239063A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000549396.6:c.2642+4624T>C MANE Select | ENSP00000450337.1:n.2642+4624T>C | |
| ENST00000333447.11:c.2345+4624T>C | ENSP00000327416.8:n.2345+4624T>C | |
| ENST00000407050.8:c.2420+4624T>C | ENSP00000385093.4:n.2420+4624T>C | |
| ENST00000443686.7:c.2345+4624T>C | ENSP00000388373.3:n.2345+4624T>C | |
| ENST00000541017.5:c.293+4624T>C | ENSP00000445532.1:n.293+4624T>C | |
| ENST00000541570.6:c.1343+4624T>C | ENSP00000438337.2:n.1343+4624T>C | |
| ENST00000545296.6:n.1243+53596T>C | ||
| ENST00000548586.5:c.2642+4624T>C | ENSP00000449338.1:n.2642+4624T>C | |
| ENST00000549325.5:c.2588+4624T>C | ENSP00000450298.1:n.2588+4624T>C | |
| ENST00000549396.5:c.2642+4624T>C | ENSP00000450337.1:n.2642+4624T>C | |
| ENST00000550018.5:c.34+4624T>C | ||
| ENST00000550359.6:c.2183+4624T>C | ENSP00000447273.2:n.2183+4624T>C | |
| ENST00000550584.6:c.2642+4624T>C | ENSP00000449558.2:n.2642+4624T>C | |
| ENST00000551147.1:c.129+4624T>C | ||
| ENST00000551461.5:c.*1030+4624T>C | ENSP00000449821.1:n.*1030+4624T>C | |
| ENST00000552948.5:c.2642+4624T>C | ENSP00000447868.1:n.2642+4624T>C | |
| NM_001220473.2:c.2642+4624T>C | NP_001207402.1:n.2642+4624T>C | |
| NM_001220474.2:c.2588+4624T>C | NP_001207403.1:n.2588+4624T>C | |
| NM_001220475.2:c.2642+4624T>C | NP_001207404.1:n.2642+4624T>C | |
| NM_001220476.2:c.2642+4624T>C | NP_001207405.1:n.2642+4624T>C | |
| NM_001220477.2:c.2420+4624T>C | NP_001207406.1:n.2420+4624T>C | |
| NM_001220478.2:c.2345+4624T>C | NP_001207407.1:n.2345+4624T>C | |
| NM_001220479.2:c.1343+4624T>C | NP_001207408.1:n.1343+4624T>C | |
| NM_001220480.2:c.293+4624T>C | NP_001207409.1:n.293+4624T>C | |
| NM_001282536.1:c.2183+4624T>C | NP_001269465.1:n.2183+4624T>C | |
| NM_003625.4:c.2642+4624T>C | NP_003616.2:n.2642+4624T>C | |
| XM_006719655.1:c.2729+4624T>C | XP_006719718.1:n.2729+4624T>C | |
| XM_006719656.2:c.2729+4624T>C | XP_006719719.1:n.2729+4624T>C | |
| XM_006719657.2:c.2729+4624T>C | XP_006719720.1:n.2729+4624T>C | |
| XM_006719658.2:c.2729+4624T>C | XP_006719721.1:n.2729+4624T>C | |
| XM_006719659.2:c.2729+4624T>C | XP_006719722.1:n.2729+4624T>C | |
| XM_006719660.2:c.2729+4624T>C | XP_006719723.1:n.2729+4624T>C | |
| XM_006719661.2:c.2654+4624T>C | XP_006719724.1:n.2654+4624T>C | |
| XM_006719662.2:c.2729+4624T>C | XP_006719725.1:n.2729+4624T>C | |
| XM_006719663.2:c.2642+4624T>C | XP_006719726.1:n.2642+4624T>C | |
| XM_006719664.2:c.2729+4624T>C | XP_006719727.1:n.2729+4624T>C | |
| XM_006719665.2:c.2729+4624T>C | XP_006719728.1:n.2729+4624T>C | |
| XM_006719666.2:c.2729+4624T>C | XP_006719729.1:n.2729+4624T>C | |
| XM_006719667.2:c.2729+4624T>C | XP_006719730.1:n.2729+4624T>C | |
| XM_006719668.2:c.2729+4624T>C | XP_006719731.1:n.2729+4624T>C | |
| XM_006719669.2:c.2507+4624T>C | XP_006719732.1:n.2507+4624T>C | |
| XM_006719670.2:c.2420+4624T>C | XP_006719733.1:n.2420+4624T>C | |
| XM_011538899.1:c.2729+4624T>C | XP_011537201.1:n.2729+4624T>C | |
| XM_011538900.1:c.2729+4624T>C | XP_011537202.1:n.2729+4624T>C | |
| XM_011538901.1:c.2729+4624T>C | XP_011537203.1:n.2729+4624T>C | |
| XM_011538902.1:c.2675+4624T>C | XP_011537204.1:n.2675+4624T>C | |
| XM_011538903.1:c.2675+4624T>C | XP_011537205.1:n.2675+4624T>C | |
| XM_011538904.1:c.2432+4624T>C | XP_011537206.1:n.2432+4624T>C | |
| XM_011538905.1:c.2429+4624T>C | XP_011537207.1:n.2429+4624T>C | |
| XM_011538906.1:c.2588+4624T>C | XP_011537208.1:n.2588+4624T>C | |
| XM_011538907.1:c.2588+4624T>C | XP_011537209.1:n.2588+4624T>C | |
| XM_011538906.2:c.2588+4624T>C | XP_011537208.1:n.2588+4624T>C | |
| XM_011538907.2:c.2588+4624T>C | XP_011537209.1:n.2588+4624T>C | |
| XM_017020079.1:c.2642+4624T>C | XP_016875568.1:n.2642+4624T>C | |
| XM_017020080.1:c.2642+4624T>C | XP_016875569.1:n.2642+4624T>C | |
| XM_017020081.2:c.2642+4624T>C | XP_016875570.1:n.2642+4624T>C | |
| XM_017020082.1:c.2642+4624T>C | XP_016875571.1:n.2642+4624T>C | |
| XM_017020083.2:c.2642+4624T>C | XP_016875572.1:n.2642+4624T>C | |
| XM_017020084.1:c.2642+4624T>C | XP_016875573.1:n.2642+4624T>C | |
| XM_017020086.1:c.2642+4624T>C | XP_016875575.1:n.2642+4624T>C | |
| XM_017020087.2:c.2642+4624T>C | XP_016875576.1:n.2642+4624T>C | |
| XM_017020088.1:c.2588+4624T>C | XP_016875577.1:n.2588+4624T>C | |
| XM_017020089.1:c.2588+4624T>C | XP_016875578.1:n.2588+4624T>C | |
| XM_017020090.2:c.2642+4624T>C | XP_016875579.1:n.2642+4624T>C | |
| XM_017020091.2:c.2642+4624T>C | XP_016875580.1:n.2642+4624T>C | |
| XM_017020092.2:c.2642+4624T>C | XP_016875581.1:n.2642+4624T>C | |
| XM_017020094.2:c.2567+4624T>C | XP_016875583.1:n.2567+4624T>C | |
| XM_017020095.2:c.2642+4624T>C | XP_016875584.1:n.2642+4624T>C | |
| XM_017020096.1:c.2567+4624T>C | XP_016875585.1:n.2567+4624T>C | |
| XM_017020097.2:c.2642+4624T>C | XP_016875586.1:n.2642+4624T>C | |
| XM_017020098.1:c.2642+4624T>C | XP_016875587.1:n.2642+4624T>C | |
| XM_017020099.1:c.2588+4624T>C | XP_016875588.1:n.2588+4624T>C | |
| XM_017020100.2:c.2642+4624T>C | XP_016875589.1:n.2642+4624T>C | |
| XM_017020101.1:c.2642+4624T>C | XP_016875590.1:n.2642+4624T>C | |
| XM_017020102.2:c.2567+4624T>C | XP_016875591.1:n.2567+4624T>C | |
| XM_017020103.2:c.2642+4624T>C | XP_016875592.1:n.2642+4624T>C | |
| XM_017020104.2:c.2642+4624T>C | XP_016875593.1:n.2642+4624T>C | |
| XM_017020105.1:c.2567+4624T>C | XP_016875594.1:n.2567+4624T>C | |
| XM_017020107.2:c.2642+4624T>C | XP_016875596.1:n.2642+4624T>C | |
| XM_017020108.2:c.2642+4624T>C | XP_016875597.1:n.2642+4624T>C | |
| XM_017020110.2:c.2513+4624T>C | XP_016875599.1:n.2513+4624T>C | |
| XM_017020118.1:c.2342+4624T>C | XP_016875607.1:n.2342+4624T>C | |
| XM_017020120.2:c.2183+4624T>C | XP_016875609.1:n.2183+4624T>C | |
| XM_024449239.1:c.2642+4624T>C | XP_024305007.1:n.2642+4624T>C | |
| XM_024449240.1:c.2642+4624T>C | XP_024305008.1:n.2642+4624T>C | |
| XM_024449241.1:c.2642+4624T>C | XP_024305009.1:n.2642+4624T>C | |
| XM_024449242.1:c.2642+4624T>C | XP_024305010.1:n.2642+4624T>C | |
| XM_024449243.1:c.2642+4624T>C | XP_024305011.1:n.2642+4624T>C | |
| XM_024449244.1:c.2642+4624T>C | XP_024305012.1:n.2642+4624T>C | |
| XM_024449245.1:c.1418+4624T>C | XP_024305013.1:n.1418+4624T>C | |
| XM_024449246.1:c.1418+4624T>C | XP_024305014.1:n.1418+4624T>C | |
| NM_001220473.3:c.2642+4624T>C | NP_001207402.1:n.2642+4624T>C | |
| NM_001220474.3:c.2588+4624T>C | NP_001207403.1:n.2588+4624T>C | |
| NM_001220479.3:c.1343+4624T>C | NP_001207408.1:n.1343+4624T>C | |
| NM_003625.5:c.2642+4624T>C MANE Select | NP_003616.2:n.2642+4624T>C | |
| NM_001220480.3:c.293+4624T>C | NP_001207409.1:n.293+4624T>C |