Linked Data
ClinVar Variation Id:
374893
ClinVar RCV Id:
RCV000415596
dbSNP Id:
rs1057519295
PubMed:
PMID:27430653
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.110746297T>G , CM000667.2:g.110746297T>G | GRCh38 |
| NC_000005.9:g.110081998T>G , CM000667.1:g.110081998T>G | GRCh37 |
| NC_000005.8:g.110109897T>G | NCBI36 |
| NG_051334.1:g.13162T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355943.8:c.413T>G MANE Select | ENSP00000348211.3:p.Leu138Arg | |
| ENST00000355943.7:c.413T>G | ENSP00000348211.3:p.Leu138Arg | |
| ENST00000447245.6:c.413T>G | ENSP00000399717.2:p.Leu138Arg | |
| ENST00000502462.6:n.729T>G | ||
| ENST00000504098.1:c.-26T>G | ENSP00000425708.1:n.-26T>G | |
| ENST00000508781.5:n.242T>G | ||
| ENST00000513807.5:c.-74T>G | ENSP00000421134.1:n.-74T>G | |
| NM_001303249.1:c.413T>G | NP_001290178.1:p.Leu138Arg | |
| NM_001303250.1:c.140T>G | NP_001290179.1:p.Leu47Arg | |
| NM_138773.2:c.413T>G | NP_620128.1:p.Leu138Arg | |
| XM_011543708.1:c.413T>G | XP_011542010.1:p.Leu138Arg | |
| NM_001303249.2:c.413T>G | NP_001290178.1:p.Leu138Arg | |
| NM_001303250.2:c.140T>G | NP_001290179.1:p.Leu47Arg | |
| NM_138773.3:c.413T>G | NP_620128.1:p.Leu138Arg | |
| NR_138151.1:n.561T>G | ||
| NM_138773.4:c.413T>G MANE Select | NP_620128.1:p.Leu138Arg | |
| NM_001303249.3:c.413T>G | NP_001290178.1:p.Leu138Arg | |
| NM_001303250.3:c.140T>G | NP_001290179.1:p.Leu47Arg | |
| NR_138151.2:n.526T>G |