Linked Data
ClinVar Variation Id:
2712051
ClinVar RCV Id:
RCV003515698
dbSNP Id:
rs758032806
ExAC:
15:89868884 G / T
gnomAD v2:
15-89868884-G-T
gnomAD v4:
15-89325653-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89325653G>T , CM000677.2:g.89325653G>T | GRCh38 |
| NC_000015.9:g.89868884G>T , CM000677.1:g.89868884G>T | GRCh37 |
| NC_000015.8:g.87669888G>T | NCBI36 |
| NG_008218.1:g.14143C>A | |
| NG_008218.2:g.14143C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1746C>A | ENSP00000516154.1:p.Asp582Glu | |
| ENST00000268124.11:c.1746C>A MANE Select | ENSP00000268124.5:p.Asp582Glu | |
| ENST00000530292.3:c.1347C>A | ENSP00000432885.2:p.Asp449Glu | |
| ENST00000635986.2:c.1746C>A | ENSP00000490653.2:p.Asp582Glu | |
| ENST00000636774.1:c.*313C>A | ENSP00000489799.1:n.*313C>A | |
| ENST00000637238.1:c.483C>A | ENSP00000490756.1:p.Asp161Glu | |
| ENST00000637264.1:c.818C>A | ||
| ENST00000666746.1:c.1323C>A | ||
| ENST00000670281.1:c.66C>A | ENSP00000499709.1:p.Asp22Glu | |
| ENST00000672071.1:n.1944C>A | ||
| ENST00000672923.2:n.1849C>A | ||
| ENST00000268124.9:c.1746C>A | ENSP00000268124.5:p.Asp582Glu | |
| ENST00000442287.6:c.1746C>A | ENSP00000399851.2:p.Asp582Glu | |
| ENST00000526314.2:c.128C>A | ||
| ENST00000631044.2:c.*1129C>A | ENSP00000486730.1:n.*1129C>A | |
| NM_001126131.1:c.1746C>A | NP_001119603.1:p.Asp582Glu | |
| NM_002693.2:c.1746C>A | NP_002684.1:p.Asp582Glu | |
| NM_001126131.2:c.1746C>A | NP_001119603.1:p.Asp582Glu | |
| NM_002693.3:c.1746C>A MANE Select | NP_002684.1:p.Asp582Glu |