Linked Data
ClinVar Variation Id:
1000357
ClinVar RCV Id:
RCV001296474
dbSNP Id:
rs2098027290
gnomAD v4:
7-152648925-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152648925T>C , CM000669.2:g.152648925T>C | GRCh38 |
| NC_000007.13:g.152346010T>C , CM000669.1:g.152346010T>C | GRCh37 |
| NC_000007.12:g.151976943T>C | NCBI36 |
| NG_027988.1:g.32241A>G | |
| NG_027988.2:g.32241A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698506.1:c.392A>G | ENSP00000513758.1:p.Tyr131Cys | |
| ENST00000359321.2:c.560A>G MANE Select | ENSP00000352271.1:p.Tyr187Cys | |
| ENST00000359321.1:c.560A>G | ENSP00000352271.1:p.Tyr187Cys | |
| ENST00000495707.1:n.582A>G | ||
| NM_005431.1:c.560A>G | NP_005422.1:p.Tyr187Cys | |
| NM_005431.2:c.560A>G MANE Select | NP_005422.1:p.Tyr187Cys |