Linked Data
ClinVar Variation Id:
492
ClinVar RCV Id:
RCV000000521
dbSNP Id:
rs104893865
gnomAD v4:
4-17509363-A-G
PubMed:
PMID:9341885
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.17509363A>G , CM000666.2:g.17509363A>G | GRCh38 |
| NC_000004.11:g.17510986A>G , CM000666.1:g.17510986A>G | GRCh37 |
| NC_000004.10:g.17120084A>G | NCBI36 |
| NG_008763.1:g.7872T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706645.1:n.1153T>C | ||
| ENST00000281243.10:c.106T>C MANE Select | ENSP00000281243.5:p.Trp36Arg | |
| ENST00000281243.9:c.106T>C | ENSP00000281243.5:p.Trp36Arg | |
| ENST00000428702.6:c.105+2587T>C | ENSP00000390944.2:n.105+2587T>C | |
| ENST00000505710.1:c.33T>C | ||
| ENST00000507439.5:c.106T>C | ENSP00000423227.1:p.Trp36Arg | |
| ENST00000508623.5:c.106T>C | ENSP00000426377.1:p.Trp36Arg | |
| ENST00000513615.5:c.106T>C | ENSP00000422759.1:p.Trp36Arg | |
| ENST00000514300.1:c.*37T>C | ENSP00000426039.1:n.*37T>C | |
| NM_000320.2:c.106T>C | NP_000311.2:p.Trp36Arg | |
| NM_001306140.1:c.105+2587T>C | NP_001293069.1:n.105+2587T>C | |
| XR_241677.1:n.269T>C | ||
| NR_156494.1:n.286T>C | ||
| NM_000320.3:c.106T>C MANE Select | NP_000311.2:p.Trp36Arg | |
| NM_001306140.2:c.105+2587T>C | NP_001293069.1:n.105+2587T>C | |
| NR_156494.2:n.142T>C |