Linked Data
ClinVar Variation Id:
490
ClinVar RCV Id:
RCV000000519
dbSNP Id:
rs104893863
gnomAD v3:
4-17511987-C-T
gnomAD v4:
4-17511987-C-T
PubMed:
PMID:8326489
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.17511987C>T , CM000666.2:g.17511987C>T | GRCh38 |
| NC_000004.11:g.17513610C>T , CM000666.1:g.17513610C>T | GRCh37 |
| NC_000004.10:g.17122708C>T | NCBI36 |
| NG_008763.1:g.5248G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281243.10:c.68G>A MANE Select | ENSP00000281243.5:p.Gly23Asp | |
| ENST00000281243.9:c.68G>A | ENSP00000281243.5:p.Gly23Asp | |
| ENST00000428702.6:c.68G>A | ENSP00000390944.2:p.Gly23Asp | |
| ENST00000507439.5:c.68G>A | ENSP00000423227.1:p.Gly23Asp | |
| ENST00000508623.5:c.68G>A | ENSP00000426377.1:p.Gly23Asp | |
| ENST00000513615.5:c.68G>A | ENSP00000422759.1:p.Gly23Asp | |
| ENST00000514300.1:c.68G>A | ENSP00000426039.1:p.Gly23Asp | |
| NM_000320.2:c.68G>A | NP_000311.2:p.Gly23Asp | |
| NM_001306140.1:c.68G>A | NP_001293069.1:p.Gly23Asp | |
| XR_241677.1:n.231G>A | ||
| NR_156494.1:n.248G>A | ||
| NM_000320.3:c.68G>A MANE Select | NP_000311.2:p.Gly23Asp | |
| NM_001306140.2:c.68G>A | NP_001293069.1:p.Gly23Asp | |
| NR_156494.2:n.104G>A |