Linked Data
ClinVar Variation Id:
5936
dbSNP Id:
rs104893731
ExAC:
3:190122557 T / C
gnomAD v2:
3-190122557-T-C
gnomAD v3:
3-190404768-T-C
gnomAD v4:
3-190404768-T-C
PubMed:
PMID:10878661
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190404768T>C , CM000665.2:g.190404768T>C | GRCh38 |
| NC_000003.11:g.190122557T>C , CM000665.1:g.190122557T>C | GRCh37 |
| NC_000003.10:g.191605251T>C | NCBI36 |
| NG_008149.1:g.21717T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.224T>C MANE Select | ENSP00000264734.3:p.Leu75Pro | |
| ENST00000456423.2:c.115-5135T>C | ENSP00000414136.2:n.115-5135T>C | |
| ENST00000264734.2:c.434T>C | ENSP00000264734.2:p.Leu145Pro | |
| ENST00000456423.1:c.325-5135T>C | ENSP00000414136.1:n.325-5135T>C | |
| ENST00000468220.1:n.416T>C | ||
| NM_006580.3:c.434T>C | NP_006571.1:p.Leu145Pro | |
| NM_001378492.1:c.224T>C | NP_001365421.1:p.Leu75Pro | |
| NM_001378493.1:c.224T>C | NP_001365422.1:p.Leu75Pro | |
| NM_006580.4:c.224T>C MANE Select | NP_006571.2:p.Leu75Pro |