gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.33302232G>T , CM000664.2:g.33302232G>T | GRCh38 |
| NC_000002.11:g.33527299G>T , CM000664.1:g.33527299G>T | GRCh37 |
| NC_000002.10:g.33380803G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404816.7:c.3481+588G>T MANE Select | ENSP00000386043.2:n.3481+588G>T | |
| ENST00000402934.5:c.2344+588G>T | ENSP00000384373.1:n.2344+588G>T | |
| ENST00000404525.5:c.2344+588G>T | ENSP00000385359.1:n.2344+588G>T | |
| ENST00000404816.6:c.3481+588G>T | ENSP00000386043.2:n.3481+588G>T | |
| ENST00000407925.5:c.2503+588G>T | ENSP00000384091.1:n.2503+588G>T | |
| ENST00000415140.6:c.381+588G>T | ||
| ENST00000418533.6:c.2503+588G>T | ENSP00000393057.2:n.2503+588G>T | |
| ENST00000422669.1:c.115+588G>T | ENSP00000395211.1:n.115+588G>T | |
| ENST00000489740.1:n.13+588G>T | ||
| ENST00000498013.1:n.673+588G>T | ||
| NM_000627.3:c.2503+588G>T | NP_000618.3:n.2503+588G>T | |
| NM_001166264.1:c.2503+588G>T | NP_001159736.1:n.2503+588G>T | |
| NM_001166265.1:c.2344+588G>T | NP_001159737.1:n.2344+588G>T | |
| NM_001166266.1:c.2344+588G>T | NP_001159738.1:n.2344+588G>T | |
| NM_206943.2:c.3481+588G>T | NP_996826.2:n.3481+588G>T | |
| XM_005264317.2:c.3322+588G>T | XP_005264374.1:n.3322+588G>T | |
| XM_005264318.2:c.3322+588G>T | XP_005264375.1:n.3322+588G>T | |
| XM_011532853.1:c.3484+588G>T | XP_011531155.1:n.3484+588G>T | |
| XM_011532854.1:c.3481+588G>T | XP_011531156.1:n.3481+588G>T | |
| XM_011532855.1:c.3478+588G>T | XP_011531157.1:n.3478+588G>T | |
| XM_011532856.1:c.3364+588G>T | XP_011531158.1:n.3364+588G>T | |
| XM_011532857.1:c.3484+588G>T | XP_011531159.1:n.3484+588G>T | |
| XM_011532858.1:c.3358+588G>T | XP_011531160.1:n.3358+588G>T | |
| XM_011532859.1:c.3325+588G>T | XP_011531161.1:n.3325+588G>T | |
| XM_011532860.1:c.3316+588G>T | XP_011531162.1:n.3316+588G>T | |
| XM_011532861.1:c.3484+588G>T | XP_011531163.1:n.3484+588G>T | |
| XM_011532862.1:c.3484+588G>T | XP_011531164.1:n.3484+588G>T | |
| XM_005264317.3:c.3322+588G>T | XP_005264374.1:n.3322+588G>T | |
| XM_005264318.3:c.3322+588G>T | XP_005264375.1:n.3322+588G>T | |
| XM_011532853.2:c.3484+588G>T | XP_011531155.1:n.3484+588G>T | |
| XM_011532855.2:c.3478+588G>T | XP_011531157.1:n.3478+588G>T | |
| XM_011532856.2:c.3364+588G>T | XP_011531158.1:n.3364+588G>T | |
| XM_011532857.2:c.3484+588G>T | XP_011531159.1:n.3484+588G>T | |
| XM_011532858.2:c.3358+588G>T | XP_011531160.1:n.3358+588G>T | |
| XM_011532859.2:c.3325+588G>T | XP_011531161.1:n.3325+588G>T | |
| XM_011532860.2:c.3316+588G>T | XP_011531162.1:n.3316+588G>T | |
| XM_011532861.2:c.3484+588G>T | XP_011531163.1:n.3484+588G>T | |
| XM_011532862.2:c.3484+588G>T | XP_011531164.1:n.3484+588G>T | |
| XM_017004108.1:c.3361+588G>T | XP_016859597.1:n.3361+588G>T | |
| XM_017004109.1:c.3481+588G>T | XP_016859598.1:n.3481+588G>T | |
| XM_017004110.1:c.3361+588G>T | XP_016859599.1:n.3361+588G>T | |
| XM_024452888.1:c.2887+588G>T | XP_024308656.1:n.2887+588G>T | |
| XM_024452889.1:c.2887+588G>T | XP_024308657.1:n.2887+588G>T | |
| XM_024452890.1:c.2377+588G>T | XP_024308658.1:n.2377+588G>T | |
| NM_206943.3:c.3481+588G>T | NP_996826.2:n.3481+588G>T | |
| NM_000627.4:c.2503+588G>T | NP_000618.4:n.2503+588G>T | |
| NM_001166264.2:c.2503+588G>T | NP_001159736.2:n.2503+588G>T | |
| NM_001166265.2:c.2344+588G>T | NP_001159737.2:n.2344+588G>T | |
| NM_001166266.2:c.2344+588G>T | NP_001159738.2:n.2344+588G>T | |
| NM_206943.4:c.3481+588G>T MANE Select | NP_996826.3:n.3481+588G>T | |
| NM_001394905.1:c.3322+588G>T | NP_001381834.1:n.3322+588G>T | |
| NM_001394906.1:c.2500+588G>T | NP_001381835.1:n.2500+588G>T | |
| NM_001394907.1:c.2416+588G>T | NP_001381836.1:n.2416+588G>T | |
| NM_001394908.1:c.2383+588G>T | NP_001381837.1:n.2383+588G>T | |
| NM_001394909.1:c.2377+588G>T | NP_001381838.1:n.2377+588G>T | |
| NM_001394910.1:c.2500+588G>T | NP_001381839.1:n.2500+588G>T | |
| NM_001394911.1:c.2374+588G>T | NP_001381840.1:n.2374+588G>T | |
| NM_001394912.1:c.2503+588G>T | NP_001381841.1:n.2503+588G>T | |
| NM_001394913.1:c.2341+588G>T | NP_001381842.1:n.2341+588G>T | |
| NM_001394914.1:c.2293+588G>T | NP_001381843.1:n.2293+588G>T | |
| NM_001394915.1:c.2419+588G>T | NP_001381844.1:n.2419+588G>T | |
| NM_001394916.1:c.2260+588G>T | NP_001381845.1:n.2260+588G>T | |
| NM_001394917.1:c.2377+588G>T | NP_001381846.1:n.2377+588G>T | |
| NM_001394918.1:c.2503+588G>T | NP_001381847.1:n.2503+588G>T | |
| NM_001394919.1:c.2500+588G>T | NP_001381848.1:n.2500+588G>T | |
| NM_001394920.1:c.2218+588G>T | NP_001381849.1:n.2218+588G>T | |
| NM_001394921.1:c.2341+588G>T | NP_001381850.1:n.2341+588G>T | |
| NM_001394923.1:c.2098+588G>T | NP_001381852.1:n.2098+588G>T | |
| NM_001394924.1:c.2218+588G>T | NP_001381853.1:n.2218+588G>T | |
| NM_001394925.1:c.2344+588G>T | NP_001381854.1:n.2344+588G>T | |
| NM_001394926.1:c.2218+588G>T | NP_001381855.1:n.2218+588G>T | |
| NM_001394927.1:c.2218+588G>T | NP_001381856.1:n.2218+588G>T |