Linked Data
dbSNP Id:
rs3769528
gnomAD v2:
2-33471192-A-G
gnomAD v3:
2-33246125-A-G
gnomAD v4:
2-33246125-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.33246125A>G , CM000664.2:g.33246125A>G | GRCh38 |
| NC_000002.11:g.33471192A>G , CM000664.1:g.33471192A>G | GRCh37 |
| NC_000002.10:g.33324696A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000404816.7:c.1999+2341A>G MANE Select | ENSP00000386043.2:n.1999+2341A>G | |
| ENST00000402934.5:c.1021+2341A>G | ENSP00000384373.1:n.1021+2341A>G | |
| ENST00000404525.5:c.1021+2341A>G | ENSP00000385359.1:n.1021+2341A>G | |
| ENST00000404816.6:c.1999+2341A>G | ENSP00000386043.2:n.1999+2341A>G | |
| ENST00000407925.5:c.1021+2341A>G | ENSP00000384091.1:n.1021+2341A>G | |
| ENST00000413303.5:c.67+2341A>G | ENSP00000415412.1:n.67+2341A>G | |
| ENST00000418533.6:c.1021+2341A>G | ENSP00000393057.2:n.1021+2341A>G | |
| NM_000627.3:c.1021+2341A>G | NP_000618.3:n.1021+2341A>G | |
| NM_001166264.1:c.1021+2341A>G | NP_001159736.1:n.1021+2341A>G | |
| NM_001166265.1:c.1021+2341A>G | NP_001159737.1:n.1021+2341A>G | |
| NM_001166266.1:c.1021+2341A>G | NP_001159738.1:n.1021+2341A>G | |
| NM_206943.2:c.1999+2341A>G | NP_996826.2:n.1999+2341A>G | |
| XM_005264317.2:c.1999+2341A>G | XP_005264374.1:n.1999+2341A>G | |
| XM_005264318.2:c.1999+2341A>G | XP_005264375.1:n.1999+2341A>G | |
| XM_011532853.1:c.1999+2341A>G | XP_011531155.1:n.1999+2341A>G | |
| XM_011532854.1:c.1999+2341A>G | XP_011531156.1:n.1999+2341A>G | |
| XM_011532855.1:c.1999+2341A>G | XP_011531157.1:n.1999+2341A>G | |
| XM_011532856.1:c.1999+2341A>G | XP_011531158.1:n.1999+2341A>G | |
| XM_011532857.1:c.1999+2341A>G | XP_011531159.1:n.1999+2341A>G | |
| XM_011532858.1:c.1999+2341A>G | XP_011531160.1:n.1999+2341A>G | |
| XM_011532859.1:c.1999+2341A>G | XP_011531161.1:n.1999+2341A>G | |
| XM_011532860.1:c.1831+2341A>G | XP_011531162.1:n.1831+2341A>G | |
| XM_011532861.1:c.1999+2341A>G | XP_011531163.1:n.1999+2341A>G | |
| XM_011532862.1:c.1999+2341A>G | XP_011531164.1:n.1999+2341A>G | |
| XM_005264317.3:c.1999+2341A>G | XP_005264374.1:n.1999+2341A>G | |
| XM_005264318.3:c.1999+2341A>G | XP_005264375.1:n.1999+2341A>G | |
| XM_011532853.2:c.1999+2341A>G | XP_011531155.1:n.1999+2341A>G | |
| XM_011532855.2:c.1999+2341A>G | XP_011531157.1:n.1999+2341A>G | |
| XM_011532856.2:c.1999+2341A>G | XP_011531158.1:n.1999+2341A>G | |
| XM_011532857.2:c.1999+2341A>G | XP_011531159.1:n.1999+2341A>G | |
| XM_011532858.2:c.1999+2341A>G | XP_011531160.1:n.1999+2341A>G | |
| XM_011532859.2:c.1999+2341A>G | XP_011531161.1:n.1999+2341A>G | |
| XM_011532860.2:c.1831+2341A>G | XP_011531162.1:n.1831+2341A>G | |
| XM_011532861.2:c.1999+2341A>G | XP_011531163.1:n.1999+2341A>G | |
| XM_011532862.2:c.1999+2341A>G | XP_011531164.1:n.1999+2341A>G | |
| XM_017004108.1:c.1999+2341A>G | XP_016859597.1:n.1999+2341A>G | |
| XM_017004109.1:c.1999+2341A>G | XP_016859598.1:n.1999+2341A>G | |
| XM_017004110.1:c.1999+2341A>G | XP_016859599.1:n.1999+2341A>G | |
| XM_024452888.1:c.1402+2341A>G | XP_024308656.1:n.1402+2341A>G | |
| XM_024452889.1:c.1402+2341A>G | XP_024308657.1:n.1402+2341A>G | |
| XM_024452890.1:c.1021+2341A>G | XP_024308658.1:n.1021+2341A>G | |
| NM_206943.3:c.1999+2341A>G | NP_996826.2:n.1999+2341A>G | |
| NM_000627.4:c.1021+2341A>G | NP_000618.4:n.1021+2341A>G | |
| NM_001166264.2:c.1021+2341A>G | NP_001159736.2:n.1021+2341A>G | |
| NM_001166265.2:c.1021+2341A>G | NP_001159737.2:n.1021+2341A>G | |
| NM_001166266.2:c.1021+2341A>G | NP_001159738.2:n.1021+2341A>G | |
| NM_206943.4:c.1999+2341A>G MANE Select | NP_996826.3:n.1999+2341A>G | |
| NM_001394905.1:c.1999+2341A>G | NP_001381834.1:n.1999+2341A>G | |
| NM_001394906.1:c.1021+2341A>G | NP_001381835.1:n.1021+2341A>G | |
| NM_001394907.1:c.1021+2341A>G | NP_001381836.1:n.1021+2341A>G | |
| NM_001394908.1:c.1021+2341A>G | NP_001381837.1:n.1021+2341A>G | |
| NM_001394909.1:c.1021+2341A>G | NP_001381838.1:n.1021+2341A>G | |
| NM_001394910.1:c.1021+2341A>G | NP_001381839.1:n.1021+2341A>G | |
| NM_001394911.1:c.1021+2341A>G | NP_001381840.1:n.1021+2341A>G | |
| NM_001394912.1:c.1021+2341A>G | NP_001381841.1:n.1021+2341A>G | |
| NM_001394913.1:c.1021+2341A>G | NP_001381842.1:n.1021+2341A>G | |
| NM_001394914.1:c.1021+2341A>G | NP_001381843.1:n.1021+2341A>G | |
| NM_001394915.1:c.1021+2341A>G | NP_001381844.1:n.1021+2341A>G | |
| NM_001394916.1:c.778+2341A>G | NP_001381845.1:n.778+2341A>G | |
| NM_001394917.1:c.1021+2341A>G | NP_001381846.1:n.1021+2341A>G | |
| NM_001394918.1:c.1021+2341A>G | NP_001381847.1:n.1021+2341A>G | |
| NM_001394919.1:c.1021+2341A>G | NP_001381848.1:n.1021+2341A>G | |
| NM_001394920.1:c.1021+2341A>G | NP_001381849.1:n.1021+2341A>G | |
| NM_001394921.1:c.1021+2341A>G | NP_001381850.1:n.1021+2341A>G | |
| NM_001394923.1:c.1021+2341A>G | NP_001381852.1:n.1021+2341A>G | |
| NM_001394924.1:c.1021+2341A>G | NP_001381853.1:n.1021+2341A>G | |
| NM_001394925.1:c.1021+2341A>G | NP_001381854.1:n.1021+2341A>G | |
| NM_001394926.1:c.1021+2341A>G | NP_001381855.1:n.1021+2341A>G | |
| NM_001394927.1:c.1021+2341A>G | NP_001381856.1:n.1021+2341A>G |