Linked Data
ClinVar Variation Id:
374892
ClinVar RCV Id:
RCV000415563
dbSNP Id:
rs1057519294
PubMed:
PMID:27543974
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.110761547T>C , CM000667.2:g.110761547T>C | GRCh38 |
| NC_000005.9:g.110097247T>C , CM000667.1:g.110097247T>C | GRCh37 |
| NC_000005.8:g.110125146T>C | NCBI36 |
| NG_051334.1:g.28412T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355943.8:c.1022T>C MANE Select | ENSP00000348211.3:p.Leu341Pro | |
| ENST00000355943.7:c.1022T>C | ENSP00000348211.3:p.Leu341Pro | |
| ENST00000447245.6:c.779T>C | ENSP00000399717.2:p.Leu260Pro | |
| ENST00000502462.6:n.1338T>C | ||
| ENST00000504098.1:c.584T>C | ENSP00000425708.1:p.Leu195Pro | |
| ENST00000509432.1:c.383T>C | ENSP00000426604.1:p.Leu128Pro | |
| ENST00000513706.2:n.2622T>C | ||
| ENST00000513807.5:c.536T>C | ENSP00000421134.1:p.Leu179Pro | |
| NM_001303249.1:c.779T>C | NP_001290178.1:p.Leu260Pro | |
| NM_001303250.1:c.749T>C | NP_001290179.1:p.Leu250Pro | |
| NM_138773.2:c.1022T>C | NP_620128.1:p.Leu341Pro | |
| NM_001303249.2:c.779T>C | NP_001290178.1:p.Leu260Pro | |
| NM_001303250.2:c.749T>C | NP_001290179.1:p.Leu250Pro | |
| NM_138773.3:c.1022T>C | NP_620128.1:p.Leu341Pro | |
| NR_138151.1:n.1296T>C | ||
| NM_138773.4:c.1022T>C MANE Select | NP_620128.1:p.Leu341Pro | |
| NM_001303249.3:c.779T>C | NP_001290178.1:p.Leu260Pro | |
| NM_001303250.3:c.749T>C | NP_001290179.1:p.Leu250Pro | |
| NR_138151.2:n.1261T>C |