Linked Data
ClinVar Variation Id:
417759
ClinVar RCV Id:
RCV000477698
dbSNP Id:
rs1060505031
PubMed:
PMID:28065471
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17600079A>G , CM000684.2:g.17600079A>G | GRCh38 |
| NC_000022.10:g.18082845A>G , CM000684.1:g.18082845A>G | GRCh37 |
| NC_000022.9:g.16462845A>G | NCBI36 |
| NG_009214.1:g.33744T>C | |
| NG_009214.2:g.33744T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253413.10:c.383T>C MANE Select | ENSP00000253413.5:p.Leu128Pro | |
| ENST00000253413.9:c.383T>C | ENSP00000253413.5:p.Leu128Pro | |
| ENST00000399796.6:c.293T>C | ENSP00000382694.2:p.Leu98Pro | |
| ENST00000399798.6:c.317T>C | ENSP00000382696.2:p.Leu106Pro | |
| ENST00000413576.1:c.386T>C | ENSP00000398932.1:p.Leu129Pro | |
| ENST00000481365.5:n.352T>C | ||
| NM_001039366.1:c.317T>C | NP_001034455.1:p.Leu106Pro | |
| NM_001039367.1:c.293T>C | NP_001034456.1:p.Leu98Pro | |
| NM_001696.3:c.383T>C | NP_001687.1:p.Leu128Pro | |
| NM_001696.4:c.383T>C MANE Select | NP_001687.1:p.Leu128Pro |