Linked Data
ClinVar Variation Id:
2967634
ClinVar RCV Id:
RCV003826296
dbSNP Id:
rs1384853803
gnomAD v2:
4-17493918-C-A
gnomAD v4:
4-17492295-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.17492295C>A , CM000666.2:g.17492295C>A | GRCh38 |
| NC_000004.11:g.17493918C>A , CM000666.1:g.17493918C>A | GRCh37 |
| NC_000004.10:g.17103016C>A | NCBI36 |
| NG_008763.1:g.24940G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706645.1:n.1529G>T | ||
| ENST00000281243.10:c.482G>T MANE Select | ENSP00000281243.5:p.Cys161Phe | |
| ENST00000281243.9:c.482G>T | ENSP00000281243.5:p.Cys161Phe | |
| ENST00000428702.6:c.389G>T | ENSP00000390944.2:p.Cys130Phe | |
| ENST00000501943.6:n.219G>T | ||
| ENST00000505710.1:c.364-1550G>T | ||
| ENST00000507439.5:c.437-1550G>T | ENSP00000423227.1:n.437-1550G>T | |
| ENST00000508623.5:c.437-5059G>T | ENSP00000426377.1:n.437-5059G>T | |
| ENST00000511609.1:n.214G>T | ||
| ENST00000513615.5:c.437-1550G>T | ENSP00000422759.1:n.437-1550G>T | |
| ENST00000514300.1:c.*368-1550G>T | ENSP00000426039.1:n.*368-1550G>T | |
| NM_000320.2:c.482G>T | NP_000311.2:p.Cys161Phe | |
| NM_001306140.1:c.389G>T | NP_001293069.1:p.Cys130Phe | |
| XR_241677.1:n.600-1550G>T | ||
| NR_156494.1:n.617-1550G>T | ||
| NM_000320.3:c.482G>T MANE Select | NP_000311.2:p.Cys161Phe | |
| NM_001306140.2:c.389G>T | NP_001293069.1:p.Cys130Phe | |
| NR_156494.2:n.473-1550G>T |