Linked Data
ClinVar Variation Id:
2128180
ClinVar RCV Id:
RCV003036207
dbSNP Id:
rs1719030411
gnomAD v3:
4-17511988-C-T
gnomAD v4:
4-17511988-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.17511988C>T , CM000666.2:g.17511988C>T | GRCh38 |
| NC_000004.11:g.17513611C>T , CM000666.1:g.17513611C>T | GRCh37 |
| NC_000004.10:g.17122709C>T | NCBI36 |
| NG_008763.1:g.5247G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281243.10:c.67G>A MANE Select | ENSP00000281243.5:p.Gly23Ser | |
| ENST00000281243.9:c.67G>A | ENSP00000281243.5:p.Gly23Ser | |
| ENST00000428702.6:c.67G>A | ENSP00000390944.2:p.Gly23Ser | |
| ENST00000507439.5:c.67G>A | ENSP00000423227.1:p.Gly23Ser | |
| ENST00000508623.5:c.67G>A | ENSP00000426377.1:p.Gly23Ser | |
| ENST00000513615.5:c.67G>A | ENSP00000422759.1:p.Gly23Ser | |
| ENST00000514300.1:c.67G>A | ENSP00000426039.1:p.Gly23Ser | |
| NM_000320.2:c.67G>A | NP_000311.2:p.Gly23Ser | |
| NM_001306140.1:c.67G>A | NP_001293069.1:p.Gly23Ser | |
| XR_241677.1:n.230G>A | ||
| NR_156494.1:n.247G>A | ||
| NM_000320.3:c.67G>A MANE Select | NP_000311.2:p.Gly23Ser | |
| NM_001306140.2:c.67G>A | NP_001293069.1:p.Gly23Ser | |
| NR_156494.2:n.103G>A |