Linked Data
ClinVar Variation Id:
98868
dbSNP Id:
rs61752880
gnomAD v4:
1-68444596-A-C
ERepo:
CA226550/MONDO:0100368/120
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68444596A>C , CM000663.2:g.68444596A>C | GRCh38 |
| NC_000001.10:g.68910279A>C , CM000663.1:g.68910279A>C | GRCh37 |
| NC_000001.9:g.68682867A>C | NCBI36 |
| NG_008472.1:g.10364T>G | |
| NG_008472.2:g.10364T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.430T>G MANE Select | ENSP00000262340.5:p.Tyr144Asp | |
| ENST00000262340.5:c.430T>G | ENSP00000262340.5:p.Tyr144Asp | |
| NM_000329.2:c.430T>G | NP_000320.1:p.Tyr144Asp | |
| XM_017002027.1:c.154T>G | XP_016857516.1:p.Tyr52Asp | |
| NM_000329.3:c.430T>G MANE Select | NP_000320.1:p.Tyr144Asp |