Linked Data
ClinVar Variation Id:
1959959
ClinVar RCV Id:
RCV002701544
dbSNP Id:
rs752552094
ExAC:
4:17513597 C / A
gnomAD v2:
4-17513597-C-A
gnomAD v4:
4-17511974-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.17511974C>A , CM000666.2:g.17511974C>A | GRCh38 |
| NC_000004.11:g.17513597C>A , CM000666.1:g.17513597C>A | GRCh37 |
| NC_000004.10:g.17122695C>A | NCBI36 |
| NG_008763.1:g.5261G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281243.10:c.81G>T MANE Select | ENSP00000281243.5:p.Val27= | |
| ENST00000281243.9:c.81G>T | ENSP00000281243.5:p.Val27= | |
| ENST00000428702.6:c.81G>T | ENSP00000390944.2:p.Val27= | |
| ENST00000505710.1:c.8G>T | ||
| ENST00000507439.5:c.81G>T | ENSP00000423227.1:p.Val27= | |
| ENST00000508623.5:c.81G>T | ENSP00000426377.1:p.Val27= | |
| ENST00000513615.5:c.81G>T | ENSP00000422759.1:p.Val27= | |
| ENST00000514300.1:c.81G>T | ENSP00000426039.1:p.Val27= | |
| NM_000320.2:c.81G>T | NP_000311.2:p.Val27= | |
| NM_001306140.1:c.81G>T | NP_001293069.1:p.Val27= | |
| XR_241677.1:n.244G>T | ||
| NR_156494.1:n.261G>T | ||
| NM_000320.3:c.81G>T MANE Select | NP_000311.2:p.Val27= | |
| NM_001306140.2:c.81G>T | NP_001293069.1:p.Val27= | |
| NR_156494.2:n.117G>T |