Linked Data
ClinVar Variation Id:
2749877
ClinVar RCV Id:
RCV003495652
dbSNP Id:
rs1227141949
gnomAD v2:
4-17513588-A-G
gnomAD v4:
4-17511965-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.17511965A>G , CM000666.2:g.17511965A>G | GRCh38 |
| NC_000004.11:g.17513588A>G , CM000666.1:g.17513588A>G | GRCh37 |
| NC_000004.10:g.17122686A>G | NCBI36 |
| NG_008763.1:g.5270T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281243.10:c.90T>C MANE Select | ENSP00000281243.5:p.Phe30= | |
| ENST00000281243.9:c.90T>C | ENSP00000281243.5:p.Phe30= | |
| ENST00000428702.6:c.90T>C | ENSP00000390944.2:p.Phe30= | |
| ENST00000505710.1:c.17T>C | ||
| ENST00000507439.5:c.90T>C | ENSP00000423227.1:p.Phe30= | |
| ENST00000508623.5:c.90T>C | ENSP00000426377.1:p.Phe30= | |
| ENST00000513615.5:c.90T>C | ENSP00000422759.1:p.Phe30= | |
| ENST00000514300.1:c.90T>C | ENSP00000426039.1:p.Phe30= | |
| NM_000320.2:c.90T>C | NP_000311.2:p.Phe30= | |
| NM_001306140.1:c.90T>C | NP_001293069.1:p.Phe30= | |
| XR_241677.1:n.253T>C | ||
| NR_156494.1:n.270T>C | ||
| NM_000320.3:c.90T>C MANE Select | NP_000311.2:p.Phe30= | |
| NM_001306140.2:c.90T>C | NP_001293069.1:p.Phe30= | |
| NR_156494.2:n.126T>C |