Linked Data
ClinVar Variation Id:
2045649
ClinVar RCV Id:
RCV002908797
dbSNP Id:
rs771248231
ExAC:
19:6714039 T / C
gnomAD v2:
19-6714039-T-C
gnomAD v3:
19-6714028-T-C
gnomAD v4:
19-6714028-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714028T>C , CM000681.2:g.6714028T>C | GRCh38 |
| NC_000019.9:g.6714039T>C , CM000681.1:g.6714039T>C | GRCh37 |
| NC_000019.8:g.6665039T>C | NCBI36 |
| NG_009557.1:g.11624A>G , LRG_27:g.11624A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.614A>G | ENSP00000512083.1:p.Tyr205Cys | |
| ENST00000245907.11:c.737A>G MANE Select | ENSP00000245907.4:p.Tyr246Cys | |
| ENST00000245907.10:c.737A>G | ENSP00000245907.4:p.Tyr246Cys | |
| ENST00000595577.1:n.241A>G | ||
| NM_000064.3:c.737A>G | NP_000055.2:p.Tyr246Cys | |
| NM_000064.4:c.737A>G MANE Select | NP_000055.2:p.Tyr246Cys |