Linked Data
ClinVar Variation Id:
1025447
ClinVar RCV Id:
RCV001325760
dbSNP Id:
rs1242543124
gnomAD v2:
20-10639242-A-C
gnomAD v4:
20-10658594-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658594A>C , CM000682.2:g.10658594A>C | GRCh38 |
| NC_000020.10:g.10639242A>C , CM000682.1:g.10639242A>C | GRCh37 |
| NC_000020.9:g.10587242A>C | NCBI36 |
| NG_007496.1:g.20453T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.568T>G MANE Select | ENSP00000254958.4:p.Tyr190Asp | |
| ENST00000254958.9:c.568T>G | ENSP00000254958.4:p.Tyr190Asp | |
| ENST00000423891.6:n.434T>G | ||
| NM_000214.2:c.568T>G | NP_000205.1:p.Tyr190Asp | |
| NM_000214.3:c.568T>G MANE Select | NP_000205.1:p.Tyr190Asp |