Linked Data
ClinVar Variation Id:
2516176
ClinVar RCV Id:
RCV004291823
dbSNP Id:
rs200646682
ExAC:
15:89424676 A / T
gnomAD v2:
15-89424676-A-T
gnomAD v3:
15-88881445-A-T
gnomAD v4:
15-88881445-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.88881445A>T , CM000677.2:g.88881445A>T | GRCh38 |
| NC_000015.9:g.89424676A>T , CM000677.1:g.89424676A>T | GRCh37 |
| NC_000015.8:g.87225680A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359595.8:c.405T>A MANE Select | ENSP00000352606.4:p.Asp135Glu | |
| ENST00000359595.7:c.405T>A | ENSP00000352606.3:p.Asp135Glu | |
| ENST00000558770.5:c.405T>A | ENSP00000456458.1:p.Asp135Glu | |
| ENST00000562281.1:c.405T>A | ENSP00000456985.1:p.Asp135Glu | |
| ENST00000562889.5:c.591T>A | ENSP00000457180.1:p.Asp197Glu | |
| ENST00000563808.1:n.507T>A | ||
| NM_001307952.1:c.591T>A | NP_001294881.1:p.Asp197Glu | |
| NM_178232.2:c.405T>A | NP_839946.1:p.Asp135Glu | |
| NM_178232.3:c.405T>A | NP_839946.1:p.Asp135Glu | |
| XM_011521261.1:c.537T>A | XP_011519563.1:p.Asp179Glu | |
| XR_243204.1:n.620T>A | ||
| XR_931756.1:n.726T>A | ||
| XM_017021934.2:c.591T>A | XP_016877423.1:p.Asp197Glu | |
| XM_017021935.2:c.26T>A | XP_016877424.1:p.Ile9Asn | |
| XM_017021936.2:c.26T>A | XP_016877425.1:p.Ile9Asn | |
| XR_001751098.2:n.738T>A | ||
| XR_931756.3:n.739T>A | ||
| NM_001307952.2:c.591T>A | NP_001294881.1:p.Asp197Glu | |
| NM_178232.4:c.405T>A MANE Select | NP_839946.1:p.Asp135Glu |