Linked Data
ClinVar Variation Id:
206596
ClinVar RCV Id:
RCV000470781
RCV000678827
RCV001027840
RCV000763995
RCV001117972
RCV000658725
RCV001004603
RCV001330959
RCV001610504
RCV001263305
RCV001847836
RCV002314743
RCV003230444
dbSNP Id:
rs145843073
ExAC:
15:89870429 T / C
gnomAD v2:
15-89870429-T-C
gnomAD v3:
15-89327198-T-C
gnomAD v4:
15-89327198-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89327198T>C , CM000677.2:g.89327198T>C | GRCh38 |
| NC_000015.9:g.89870429T>C , CM000677.1:g.89870429T>C | GRCh37 |
| NC_000015.8:g.87671433T>C | NCBI36 |
| NG_008218.1:g.12598A>G | |
| NG_008218.2:g.12598A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1402A>G | ENSP00000516154.1:p.Asn468Asp | |
| ENST00000268124.11:c.1402A>G MANE Select | ENSP00000268124.5:p.Asn468Asp | |
| ENST00000530292.3:c.1003A>G | ENSP00000432885.2:p.Asn335Asp | |
| ENST00000635986.2:c.1402A>G | ENSP00000490653.2:p.Asn468Asp | |
| ENST00000636774.1:c.1402A>G | ENSP00000489799.1:p.Asn468Asp | |
| ENST00000637238.1:c.139A>G | ENSP00000490756.1:p.Asn47Asp | |
| ENST00000637264.1:c.474A>G | ||
| ENST00000666746.1:c.979A>G | ||
| ENST00000672071.1:n.1600A>G | ||
| ENST00000672923.2:n.1505A>G | ||
| ENST00000268124.9:c.1402A>G | ENSP00000268124.5:p.Asn468Asp | |
| ENST00000442287.6:c.1402A>G | ENSP00000399851.2:p.Asn468Asp | |
| ENST00000532363.2:n.260A>G | ||
| ENST00000631044.2:c.*785A>G | ENSP00000486730.1:n.*785A>G | |
| NM_001126131.1:c.1402A>G | NP_001119603.1:p.Asn468Asp | |
| NM_002693.2:c.1402A>G | NP_002684.1:p.Asn468Asp | |
| NM_001126131.2:c.1402A>G | NP_001119603.1:p.Asn468Asp | |
| NM_002693.3:c.1402A>G MANE Select | NP_002684.1:p.Asn468Asp |