Linked Data
ClinVar Variation Id:
13645
ClinVar RCV Id:
RCV000014615
dbSNP Id:
rs137853587
PubMed:
PMID:9856489
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.34394020T>C , CM000681.2:g.34394020T>C | GRCh38 |
| NC_000019.9:g.34884925T>C , CM000681.1:g.34884925T>C | GRCh37 |
| NC_000019.8:g.39576765T>C | NCBI36 |
| NG_012838.2:g.34281T>C | |
| NG_012838.3:g.39429T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356487.11:c.1016T>C MANE Select | ENSP00000348877.3:p.Leu339Pro | |
| ENST00000415930.8:c.1133T>C | ENSP00000405573.3:p.Leu378Pro | |
| ENST00000586425.2:c.904T>C | ||
| ENST00000588991.7:c.1049T>C | ENSP00000465858.3:p.Leu350Pro | |
| ENST00000643067.1:n.2061T>C | ||
| ENST00000647446.1:c.*144T>C | ENSP00000495129.1:n.*144T>C | |
| ENST00000356487.9:c.1016T>C | ENSP00000348877.3:p.Leu339Pro | |
| ENST00000415930.7:c.1049T>C | ENSP00000405573.2:p.Leu350Pro | |
| ENST00000586392.1:n.754T>C | ||
| ENST00000586425.1:c.1016T>C | ENSP00000467670.2:p.Leu339Pro | |
| ENST00000588991.6:c.1061T>C | ENSP00000465858.2:p.Leu354Pro | |
| ENST00000589985.5:n.1264T>C | ||
| NM_000175.3:c.1016T>C | NP_000166.2:p.Leu339Pro | |
| NM_001184722.1:c.1049T>C | NP_001171651.1:p.Leu350Pro | |
| NM_001289789.1:c.1133T>C | NP_001276718.1:p.Leu378Pro | |
| NM_001289790.1:c.932T>C | NP_001276719.1:p.Leu311Pro | |
| XM_005258764.1:c.1016T>C | XP_005258821.1:p.Leu339Pro | |
| XM_006723148.1:c.1016T>C | XP_006723211.1:p.Leu339Pro | |
| XM_011526754.1:c.1133T>C | XP_011525056.1:p.Leu378Pro | |
| NM_000175.5:c.1016T>C MANE Select | NP_000166.2:p.Leu339Pro | |
| NM_001289790.2:c.932T>C | NP_001276719.1:p.Leu311Pro | |
| NM_001329909.1:c.1016T>C | NP_001316838.1:p.Leu339Pro | |
| NM_001329910.1:c.1016T>C | NP_001316839.1:p.Leu339Pro | |
| NM_001329911.1:c.1016T>C | NP_001316840.1:p.Leu339Pro | |
| XM_011526754.3:c.1133T>C | XP_011525056.1:p.Leu378Pro | |
| NM_001289790.3:c.932T>C | NP_001276719.1:p.Leu311Pro | |
| NM_001329911.2:c.1016T>C | NP_001316840.1:p.Leu339Pro |