Linked Data
ClinVar Variation Id:
372256
ClinVar RCV Id:
RCV000412495
dbSNP Id:
rs1057519084
gnomAD v3:
8-95032023-T-C
gnomAD v4:
8-95032023-T-C
PubMed:
PMID:26741492
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95032023T>C , CM000670.2:g.95032023T>C | GRCh38 |
| NC_000008.10:g.96044251T>C , CM000670.1:g.96044251T>C | GRCh37 |
| NC_000008.9:g.96113427T>C | NCBI36 |
| NG_016647.1:g.12031T>C | |
| NG_016647.2:g.141753T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000519804.2:c.226T>C | ENSP00000430230.2:p.Ser76Pro | |
| ENST00000697355.1:c.-55T>C | ENSP00000513277.1:n.-55T>C | |
| ENST00000697364.1:c.-55T>C | ENSP00000513278.1:n.-55T>C | |
| ENST00000396124.9:c.226T>C MANE Select | ENSP00000379430.4:p.Ser76Pro | |
| ENST00000396111.6:c.-55T>C | ENSP00000379417.1:n.-55T>C | |
| ENST00000396113.5:c.-55T>C | ENSP00000379419.1:n.-55T>C | |
| ENST00000396124.8:c.226T>C | ENSP00000379430.4:p.Ser76Pro | |
| ENST00000454358.6:c.167T>C | ||
| ENST00000517976.5:c.214T>C | ENSP00000430099.1:p.Ser72Pro | |
| ENST00000518258.5:c.226T>C | ENSP00000428788.1:p.Ser76Pro | |
| ENST00000518608.5:c.139-3431T>C | ||
| ENST00000519136.5:c.-227T>C | ENSP00000429585.1:n.-227T>C | |
| ENST00000520632.5:c.202T>C | ENSP00000428666.1:p.Ser68Pro | |
| ENST00000520757.1:c.167T>C | ||
| ENST00000522683.5:c.169T>C | ENSP00000430991.1:p.Ser57Pro | |
| ENST00000523337.5:c.226T>C | ENSP00000429038.1:p.Ser76Pro | |
| ENST00000523378.5:c.-55T>C | ENSP00000428034.1:n.-55T>C | |
| NM_152416.3:c.226T>C | NP_689629.2:p.Ser76Pro | |
| XM_005250789.1:c.-55T>C | XP_005250846.1:n.-55T>C | |
| XM_005250790.1:c.-227T>C | XP_005250847.1:n.-227T>C | |
| XM_005250791.1:c.-355T>C | XP_005250848.1:n.-355T>C | |
| XM_005250792.1:c.-359T>C | XP_005250849.1:n.-359T>C | |
| XM_005250793.1:c.-428T>C | XP_005250850.1:n.-428T>C | |
| XM_011516833.1:c.70T>C | XP_011515135.1:p.Ser24Pro | |
| XM_011516834.1:c.70T>C | XP_011515136.1:p.Ser24Pro | |
| XM_011516835.1:c.70T>C | XP_011515137.1:p.Ser24Pro | |
| XM_011516836.1:c.70T>C | XP_011515138.1:p.Ser24Pro | |
| XM_011516837.1:c.70T>C | XP_011515139.1:p.Ser24Pro | |
| XM_011516838.1:c.70T>C | XP_011515140.1:p.Ser24Pro | |
| XM_011516839.1:c.70T>C | XP_011515141.1:p.Ser24Pro | |
| XM_011516840.1:c.70T>C | XP_011515142.1:p.Ser24Pro | |
| XM_011516841.1:c.70T>C | XP_011515143.1:p.Ser24Pro | |
| XM_011516842.1:c.70T>C | XP_011515144.1:p.Ser24Pro | |
| XM_011516843.1:c.-55T>C | XP_011515145.1:n.-55T>C | |
| XM_011516844.1:c.-152+12T>C | XP_011515146.1:n.-152+12T>C | |
| NM_001330582.1:c.-55T>C | NP_001317511.1:n.-55T>C | |
| NM_001354514.1:c.-55T>C | NP_001341443.1:n.-55T>C | |
| NM_001354515.1:c.-55T>C | NP_001341444.1:n.-55T>C | |
| NM_001354516.1:c.70T>C | NP_001341445.1:p.Ser24Pro | |
| NM_001354517.1:c.-36-3431T>C | NP_001341446.1:n.-36-3431T>C | |
| NM_001354518.1:c.-227T>C | NP_001341447.1:n.-227T>C | |
| NM_001354519.1:c.-223T>C | NP_001341448.1:n.-223T>C | |
| NM_001354521.1:c.-55T>C | NP_001341450.1:n.-55T>C | |
| NM_001354522.1:c.-355T>C | NP_001341451.1:n.-355T>C | |
| NM_001354524.1:c.-428T>C | NP_001341453.1:n.-428T>C | |
| NM_001354525.1:c.-428T>C | NP_001341454.1:n.-428T>C | |
| NM_001354527.1:c.-572T>C | NP_001341456.1:n.-572T>C | |
| NM_001354528.1:c.-543T>C | NP_001341457.1:n.-543T>C | |
| NM_001354529.1:c.-355T>C | NP_001341458.1:n.-355T>C | |
| NM_001354530.1:c.-457T>C | NP_001341459.1:n.-457T>C | |
| NM_001354531.1:c.-453T>C | NP_001341460.1:n.-453T>C | |
| NM_001354532.1:c.-461T>C | NP_001341461.1:n.-461T>C | |
| NM_001354533.1:c.-424T>C | NP_001341462.1:n.-424T>C | |
| NM_001354534.1:c.-108T>C | NP_001341463.1:n.-108T>C | |
| NR_148910.1:n.260T>C | ||
| NR_148911.1:n.260T>C | ||
| NR_148912.1:n.260T>C | ||
| NR_148913.1:n.260T>C | ||
| NR_148914.1:n.260T>C | ||
| NR_148915.1:n.260T>C | ||
| XM_005250792.2:c.-359T>C | XP_005250849.1:n.-359T>C | |
| XM_005250793.3:c.-428T>C | XP_005250850.1:n.-428T>C | |
| XM_011516833.2:c.70T>C | XP_011515135.1:p.Ser24Pro | |
| XM_011516834.2:c.70T>C | XP_011515136.1:p.Ser24Pro | |
| XM_011516835.2:c.70T>C | XP_011515137.1:p.Ser24Pro | |
| XM_011516836.2:c.70T>C | XP_011515138.1:p.Ser24Pro | |
| XM_011516837.2:c.70T>C | XP_011515139.1:p.Ser24Pro | |
| XM_011516838.2:c.70T>C | XP_011515140.1:p.Ser24Pro | |
| XM_011516839.2:c.70T>C | XP_011515141.1:p.Ser24Pro | |
| XM_011516840.2:c.70T>C | XP_011515142.1:p.Ser24Pro | |
| XM_011516841.2:c.70T>C | XP_011515143.1:p.Ser24Pro | |
| XM_011516842.2:c.70T>C | XP_011515144.1:p.Ser24Pro | |
| XM_017013027.2:c.70T>C | XP_016868516.1:p.Ser24Pro | |
| XM_017013028.1:c.70T>C | XP_016868517.1:p.Ser24Pro | |
| XM_017013029.1:c.70T>C | XP_016868518.1:p.Ser24Pro | |
| XM_017013033.2:c.-55T>C | XP_016868522.1:n.-55T>C | |
| XM_024447062.1:c.-108T>C | XP_024302830.1:n.-108T>C | |
| NM_152416.4:c.226T>C MANE Select | NP_689629.2:p.Ser76Pro | |
| NR_148913.2:n.246T>C | ||
| NR_148914.2:n.246T>C | ||
| NM_001330582.2:c.-55T>C | NP_001317511.1:n.-55T>C | |
| NM_001354514.2:c.-55T>C | NP_001341443.1:n.-55T>C | |
| NM_001354515.2:c.-55T>C | NP_001341444.1:n.-55T>C | |
| NM_001354516.2:c.70T>C | NP_001341445.1:p.Ser24Pro | |
| NM_001354517.2:c.-36-3431T>C | NP_001341446.1:n.-36-3431T>C | |
| NM_001354518.2:c.-227T>C | NP_001341447.1:n.-227T>C | |
| NM_001354519.2:c.-223T>C | NP_001341448.1:n.-223T>C | |
| NM_001354521.2:c.-55T>C | NP_001341450.1:n.-55T>C | |
| NM_001354522.2:c.-355T>C | NP_001341451.1:n.-355T>C | |
| NM_001354524.2:c.-428T>C | NP_001341453.1:n.-428T>C | |
| NM_001354525.2:c.-428T>C | NP_001341454.1:n.-428T>C | |
| NM_001354527.2:c.-572T>C | NP_001341456.1:n.-572T>C | |
| NM_001354528.2:c.-543T>C | NP_001341457.1:n.-543T>C | |
| NM_001354529.2:c.-355T>C | NP_001341458.1:n.-355T>C | |
| NM_001354530.2:c.-457T>C | NP_001341459.1:n.-457T>C | |
| NM_001354531.2:c.-453T>C | NP_001341460.1:n.-453T>C | |
| NM_001354532.2:c.-461T>C | NP_001341461.1:n.-461T>C | |
| NM_001354533.2:c.-424T>C | NP_001341462.1:n.-424T>C | |
| NM_001354534.2:c.-108T>C | NP_001341463.1:n.-108T>C | |
| NR_148910.2:n.246T>C | ||
| NR_148911.2:n.246T>C | ||
| NR_148912.2:n.246T>C | ||
| NR_148915.2:n.246T>C |