Linked Data
ClinVar Variation Id:
458185
dbSNP Id:
rs761609284
ExAC:
13:48937082 A / G
gnomAD v2:
13-48937082-A-G
gnomAD v3:
13-48362946-A-G
gnomAD v4:
13-48362946-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48362946A>G , CM000675.2:g.48362946A>G | GRCh38 |
| NC_000013.10:g.48937082A>G , CM000675.1:g.48937082A>G | GRCh37 |
| NC_000013.9:g.47835083A>G | NCBI36 |
| NG_009009.1:g.64200A>G , LRG_517:g.64200A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.850A>G MANE Select | ENSP00000267163.4:p.Asn284Asp | |
| ENST00000650461.1:c.850A>G | ENSP00000497193.1:p.Asn284Asp | |
| ENST00000267163.4:c.850A>G | ENSP00000267163.4:p.Asn284Asp | |
| NM_000321.2:c.850A>G , LRG_517t1:c.850A>G | NP_000312.2:p.Asn284Asp | |
| XM_011535171.1:c.589A>G | XP_011533473.1:p.Asn197Asp | |
| XM_011535171.2:c.589A>G | XP_011533473.1:p.Asn197Asp | |
| NM_000321.3:c.850A>G MANE Select | NP_000312.2:p.Asn284Asp |