Linked Data
ClinVar Variation Id:
365516
dbSNP Id:
rs368309229
ExAC:
9:135778177 A / G
gnomAD v2:
9-135778177-A-G
gnomAD v3:
9-132902790-A-G
gnomAD v4:
9-132902790-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132902790A>G , CM000671.2:g.132902790A>G | GRCh38 |
| NC_000009.11:g.135778177A>G , CM000671.1:g.135778177A>G | GRCh37 |
| NC_000009.10:g.134767998A>G | NCBI36 |
| NG_012386.1:g.46844T>C , LRG_486:g.46844T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.2206-3T>C | ENSP00000496126.2:n.2206-3T>C | |
| ENST00000490179.4:c.2209-3T>C | ENSP00000495533.2:n.2209-3T>C | |
| ENST00000642261.2:c.2209-7T>C | ENSP00000494743.2:n.2209-7T>C | |
| ENST00000643275.2:c.*149-3T>C | ENSP00000495598.2:n.*149-3T>C | |
| ENST00000643362.2:c.1822-3T>C | ENSP00000496398.2:n.1822-3T>C | |
| ENST00000643625.2:c.2042-3T>C | ENSP00000495546.2:n.2042-3T>C | |
| ENST00000643691.2:c.1846-3T>C | ENSP00000494916.2:n.1846-3T>C | |
| ENST00000644184.2:c.2209-3T>C | ENSP00000495428.2:n.2209-3T>C | |
| ENST00000645129.2:c.2053-3T>C | ENSP00000493639.2:n.2053-3T>C | |
| ENST00000646440.2:c.2209-3T>C | ENSP00000495830.2:n.2209-3T>C | |
| ENST00000298552.9:c.2209-3T>C MANE Select | ENSP00000298552.3:n.2209-3T>C | |
| ENST00000642261.1:c.273-7T>C | ||
| ENST00000642617.1:c.2206-3T>C | ENSP00000493773.1:n.2206-3T>C | |
| ENST00000642627.1:c.2191-3T>C | ENSP00000496772.1:n.2191-3T>C | |
| ENST00000642811.1:c.*1979-3T>C | ENSP00000495554.1:n.*1979-3T>C | |
| ENST00000643072.1:c.2056-3T>C | ENSP00000496691.1:n.2056-3T>C | |
| ENST00000643275.1:c.683-3T>C | ENSP00000495598.1:n.683-3T>C | |
| ENST00000643583.1:c.2194-3T>C | ENSP00000494685.1:n.2194-3T>C | |
| ENST00000643625.1:c.86-3T>C | ENSP00000495546.1:n.86-3T>C | |
| ENST00000643875.1:c.2209-3T>C | ENSP00000495158.1:n.2209-3T>C | |
| ENST00000644097.1:c.2206-3T>C | ENSP00000494682.1:n.2206-3T>C | |
| ENST00000644184.1:c.946-3T>C | ENSP00000495428.1:n.946-3T>C | |
| ENST00000644255.1:c.*1976-3T>C | ENSP00000493608.1:n.*1976-3T>C | |
| ENST00000644319.1:n.2584-3T>C | ||
| ENST00000644882.1:n.1164-3T>C | ||
| ENST00000645901.1:n.3060-3T>C | ||
| ENST00000646391.1:c.*1979-3T>C | ENSP00000494104.1:n.*1979-3T>C | |
| ENST00000646625.1:c.2209-3T>C | ENSP00000496263.1:n.2209-3T>C | |
| ENST00000647262.1:n.1174-3T>C | ||
| ENST00000647279.1:c.*1448-3T>C | ENSP00000494502.1:n.*1448-3T>C | |
| ENST00000647506.1:n.3085-3T>C | ||
| ENST00000647534.1:n.1273-3T>C | ||
| ENST00000298552.7:c.2209-3T>C | ENSP00000298552.3:n.2209-3T>C | |
| ENST00000440111.6:c.2209-3T>C | ENSP00000394524.2:n.2209-3T>C | |
| ENST00000545250.5:c.2056-3T>C | ENSP00000444017.1:n.2056-3T>C | |
| NM_000368.4:c.2209-3T>C , LRG_486t1:c.2209-3T>C | NP_000359.1:n.2209-3T>C | |
| NM_001162426.1:c.2206-3T>C | NP_001155898.1:n.2206-3T>C | |
| NM_001162427.1:c.2056-3T>C | NP_001155899.1:n.2056-3T>C | |
| XM_005272211.1:c.2209-3T>C | XP_005272268.1:n.2209-3T>C | |
| XM_006717271.1:c.2209-3T>C | XP_006717334.1:n.2209-3T>C | |
| XM_011518979.1:c.2209-3T>C | XP_011517281.1:n.2209-3T>C | |
| NM_001362177.1:c.1846-3T>C | NP_001349106.1:n.1846-3T>C | |
| XM_011518979.2:c.2209-3T>C | XP_011517281.1:n.2209-3T>C | |
| XM_017015096.1:c.2209-3T>C | XP_016870585.1:n.2209-3T>C | |
| XM_017015097.1:c.2209-3T>C | XP_016870586.1:n.2209-3T>C | |
| XM_017015098.1:c.2206-3T>C | XP_016870587.1:n.2206-3T>C | |
| XM_017015100.1:c.1846-3T>C | XP_016870589.1:n.1846-3T>C | |
| XM_017015101.1:c.1843-3T>C | XP_016870590.1:n.1843-3T>C | |
| NM_000368.5:c.2209-3T>C MANE Select | NP_000359.1:n.2209-3T>C | |
| NM_001162426.2:c.2206-3T>C | NP_001155898.1:n.2206-3T>C | |
| NM_001162427.2:c.2056-3T>C | NP_001155899.1:n.2056-3T>C | |
| NM_001362177.2:c.1846-3T>C | NP_001349106.1:n.1846-3T>C |