Linked Data
ClinVar Variation Id:
1346196
ClinVar RCV Id:
RCV002041365
dbSNP Id:
rs2139752310
gnomAD v4:
14-99174183-C-T
COSMIC:
COSM959458
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.99174183C>T , CM000676.2:g.99174183C>T | GRCh38 |
| NC_000014.8:g.99640520C>T , CM000676.1:g.99640520C>T | GRCh37 |
| NC_000014.7:g.98710273C>T | NCBI36 |
| NG_027894.1:g.102303G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357195.8:c.2653G>A MANE Select | ENSP00000349723.3:p.Asp885Asn | |
| ENST00000345514.2:c.2440G>A | ENSP00000280435.6:p.Asp814Asn | |
| ENST00000357195.7:c.2653G>A | ENSP00000349723.3:p.Asp885Asn | |
| ENST00000443726.2:c.2071G>A | ENSP00000387419.2:p.Asp691Asn | |
| NM_001282237.1:c.2650G>A | NP_001269166.1:p.Asp884Asn | |
| NM_001282238.1:c.2437G>A | NP_001269167.1:p.Asp813Asn | |
| NM_022898.2:c.2440G>A | NP_075049.1:p.Asp814Asn | |
| NM_138576.3:c.2653G>A | NP_612808.1:p.Asp885Asn | |
| XM_011537100.1:c.2515G>A | XP_011535402.1:p.Asp839Asn | |
| NM_138576.4:c.2653G>A MANE Select | NP_612808.1:p.Asp885Asn | |
| NM_001282237.2:c.2650G>A | NP_001269166.1:p.Asp884Asn | |
| NM_001282238.2:c.2437G>A | NP_001269167.1:p.Asp813Asn | |
| NM_022898.3:c.2440G>A | NP_075049.1:p.Asp814Asn |