Linked Data
ClinVar Variation Id:
5930
ClinVar RCV Id:
RCV000006293
dbSNP Id:
rs104893725
gnomAD v4:
3-190404834-T-C
PubMed:
PMID:10390358
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190404834T>C , CM000665.2:g.190404834T>C | GRCh38 |
| NC_000003.11:g.190122623T>C , CM000665.1:g.190122623T>C | GRCh37 |
| NC_000003.10:g.191605317T>C | NCBI36 |
| NG_008149.1:g.21783T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.290T>C MANE Select | ENSP00000264734.3:p.Leu97Pro | |
| ENST00000456423.2:c.115-5069T>C | ENSP00000414136.2:n.115-5069T>C | |
| ENST00000264734.2:c.500T>C | ENSP00000264734.2:p.Leu167Pro | |
| ENST00000456423.1:c.325-5069T>C | ENSP00000414136.1:n.325-5069T>C | |
| ENST00000468220.1:n.482T>C | ||
| NM_006580.3:c.500T>C | NP_006571.1:p.Leu167Pro | |
| NM_001378492.1:c.290T>C | NP_001365421.1:p.Leu97Pro | |
| NM_001378493.1:c.290T>C | NP_001365422.1:p.Leu97Pro | |
| NM_006580.4:c.290T>C MANE Select | NP_006571.2:p.Leu97Pro |