Linked Data
ClinVar Variation Id:
296448
dbSNP Id:
rs759461234
ExAC:
1:236572569 A / G
gnomAD v2:
1-236572569-A-G
gnomAD v4:
1-236409269-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236409269A>G , CM000663.2:g.236409269A>G | GRCh38 |
| NC_000001.10:g.236572569A>G , CM000663.1:g.236572569A>G | GRCh37 |
| NC_000001.9:g.234639192A>G | NCBI36 |
| NG_011566.1:g.19890A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334232.9:c.115A>G MANE Select | ENSP00000335076.4:p.Asn39Asp | |
| ENST00000359362.6:c.85A>G | ENSP00000352320.4:p.Asn29Asp | |
| ENST00000637660.1:c.49A>G | ENSP00000490347.1:p.Asn17Asp | |
| ENST00000642595.1:c.85A>G | ENSP00000494458.1:p.Asn29Asp | |
| ENST00000334232.8:c.115A>G | ENSP00000335076.4:p.Asn39Asp | |
| ENST00000359362.5:c.85A>G | ENSP00000352320.4:p.Asn29Asp | |
| ENST00000439430.5:c.49A>G | ENSP00000405815.1:p.Asn17Asp | |
| NM_080738.3:c.85A>G | NP_542776.1:p.Asn29Asp | |
| NM_145861.2:c.115A>G | NP_665860.2:p.Asn39Asp | |
| NM_080738.4:c.85A>G | NP_542776.1:p.Asn29Asp | |
| NM_145861.4:c.115A>G MANE Select | NP_665860.2:p.Asn39Asp |