Linked Data
ClinVar Variation Id:
2239510
ClinVar RCV Id:
RCV002751937
dbSNP Id:
rs377085803
ExAC:
X:50654052 T / C
gnomAD v2:
X-50654052-T-C
gnomAD v3:
X-50911052-T-C
gnomAD v4:
X-50911052-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50911052T>C , CM000685.2:g.50911052T>C | GRCh38 |
| NC_000023.10:g.50654052T>C , CM000685.1:g.50654052T>C | GRCh37 |
| NC_000023.9:g.50670792T>C | NCBI36 |
| NG_012894.1:g.5269T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.269T>C MANE Select | ENSP00000252677.3:p.Ile90Thr | |
| ENST00000252677.3:c.269T>C | ENSP00000252677.3:p.Ile90Thr | |
| NM_005448.2:c.269T>C MANE Select | NP_005439.2:p.Ile90Thr |