Linked Data
ClinVar Variation Id:
237719
dbSNP Id:
rs764018144
gnomAD v2:
9-135771701-T-G
gnomAD v3:
9-132896314-T-G
gnomAD v4:
9-132896314-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132896314T>G , CM000671.2:g.132896314T>G | GRCh38 |
| NC_000009.11:g.135771701T>G , CM000671.1:g.135771701T>G | GRCh37 |
| NC_000009.10:g.134761522T>G | NCBI36 |
| NG_012386.1:g.53320A>C , LRG_486:g.53320A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.3413A>C | ENSP00000496126.2:p.His1138Pro | |
| ENST00000490179.4:c.3416A>C | ENSP00000495533.2:p.His1139Pro | |
| ENST00000642261.2:c.*1272A>C | ENSP00000494743.2:n.*1272A>C | |
| ENST00000643275.2:c.*1356A>C | ENSP00000495598.2:n.*1356A>C | |
| ENST00000643362.2:c.3029A>C | ENSP00000496398.2:p.His1010Pro | |
| ENST00000643625.2:c.*1158A>C | ENSP00000495546.2:n.*1158A>C | |
| ENST00000643691.2:c.3053A>C | ENSP00000494916.2:p.His1018Pro | |
| ENST00000644184.2:c.3374A>C | ENSP00000495428.2:p.His1125Pro | |
| ENST00000645129.2:c.3260A>C | ENSP00000493639.2:p.His1087Pro | |
| ENST00000646440.2:c.3416A>C | ENSP00000495830.2:p.His1139Pro | |
| ENST00000298552.9:c.3416A>C MANE Select | ENSP00000298552.3:p.His1139Pro | |
| ENST00000642617.1:c.3413A>C | ENSP00000493773.1:p.His1138Pro | |
| ENST00000642627.1:c.3398A>C | ENSP00000496772.1:p.His1133Pro | |
| ENST00000642811.1:c.*3186A>C | ENSP00000495554.1:n.*3186A>C | |
| ENST00000643072.1:c.3263A>C | ENSP00000496691.1:p.His1088Pro | |
| ENST00000643583.1:c.3401A>C | ENSP00000494685.1:p.His1134Pro | |
| ENST00000643625.1:c.1293A>C | ENSP00000495546.1:n.1293A>C | |
| ENST00000643875.1:c.3416A>C | ENSP00000495158.1:p.His1139Pro | |
| ENST00000644097.1:c.3413A>C | ENSP00000494682.1:p.His1138Pro | |
| ENST00000644184.1:c.2111A>C | ENSP00000495428.1:p.His704Pro | |
| ENST00000644255.1:c.*3183A>C | ENSP00000493608.1:n.*3183A>C | |
| ENST00000644319.1:n.3791A>C | ||
| ENST00000644786.1:n.1075A>C | ||
| ENST00000644882.1:n.2324A>C | ||
| ENST00000645901.1:n.4267A>C | ||
| ENST00000646391.1:c.*3186A>C | ENSP00000494104.1:n.*3186A>C | |
| ENST00000646625.1:c.3416A>C | ENSP00000496263.1:p.His1139Pro | |
| ENST00000647262.1:n.2381A>C | ||
| ENST00000647279.1:c.*2655A>C | ENSP00000494502.1:n.*2655A>C | |
| ENST00000647534.1:n.2480A>C | ||
| ENST00000298552.7:c.3416A>C | ENSP00000298552.3:p.His1139Pro | |
| ENST00000440111.6:c.3416A>C | ENSP00000394524.2:p.His1139Pro | |
| ENST00000545250.5:c.3263A>C | ENSP00000444017.1:p.His1088Pro | |
| NM_000368.4:c.3416A>C , LRG_486t1:c.3416A>C | NP_000359.1:p.His1139Pro | |
| NM_001162426.1:c.3413A>C | NP_001155898.1:p.His1138Pro | |
| NM_001162427.1:c.3263A>C | NP_001155899.1:p.His1088Pro | |
| XM_005272211.1:c.3416A>C | XP_005272268.1:p.His1139Pro | |
| XM_006717271.1:c.3416A>C | XP_006717334.1:p.His1139Pro | |
| XM_011518979.1:c.3416A>C | XP_011517281.1:p.His1139Pro | |
| NM_001362177.1:c.3053A>C | NP_001349106.1:p.His1018Pro | |
| XM_011518979.2:c.3416A>C | XP_011517281.1:p.His1139Pro | |
| XM_017015096.1:c.3416A>C | XP_016870585.1:p.His1139Pro | |
| XM_017015097.1:c.3416A>C | XP_016870586.1:p.His1139Pro | |
| XM_017015098.1:c.3413A>C | XP_016870587.1:p.His1138Pro | |
| XM_017015100.1:c.3053A>C | XP_016870589.1:p.His1018Pro | |
| XM_017015101.1:c.3050A>C | XP_016870590.1:p.His1017Pro | |
| NM_000368.5:c.3416A>C MANE Select | NP_000359.1:p.His1139Pro | |
| NM_001162426.2:c.3413A>C | NP_001155898.1:p.His1138Pro | |
| NM_001162427.2:c.3263A>C | NP_001155899.1:p.His1088Pro | |
| NM_001362177.2:c.3053A>C | NP_001349106.1:p.His1018Pro |