Linked Data
ClinVar Variation Id:
1719546
ClinVar RCV Id:
RCV002303804
dbSNP Id:
rs1297782339
gnomAD v2:
6-1611075-T-C
gnomAD v3:
6-1610840-T-C
gnomAD v4:
6-1610840-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610840T>C , CM000668.2:g.1610840T>C | GRCh38 |
| NC_000006.11:g.1611075T>C , CM000668.1:g.1611075T>C | GRCh37 |
| NC_000006.10:g.1556074T>C | NCBI36 |
| NG_009368.1:g.5395T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.395T>C MANE Select | ENSP00000493906.1:p.Leu132Pro | |
| ENST00000380874.3:c.395T>C | ENSP00000370256.2:p.Leu132Pro | |
| NM_001453.2:c.395T>C | NP_001444.2:p.Leu132Pro | |
| NM_001453.3:c.395T>C MANE Select | NP_001444.2:p.Leu132Pro |