Linked Data
ClinVar Variation Id:
1910025
ClinVar RCV Id:
RCV002592957
dbSNP Id:
rs767113732
ExAC:
2:198570990 C / T
gnomAD v2:
2-198570990-C-T
gnomAD v4:
2-197706266-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.197706266C>T , CM000664.2:g.197706266C>T | GRCh38 |
| NC_000002.11:g.198570990C>T , CM000664.1:g.198570990C>T | GRCh37 |
| NC_000002.10:g.198279235C>T | NCBI36 |
| NG_034122.1:g.5963C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282276.8:c.861C>T MANE Select | ENSP00000282276.6:p.Leu287= | |
| ENST00000282276.7:c.861C>T | ENSP00000282276.6:p.Leu287= | |
| NM_138395.3:c.861C>T | NP_612404.1:p.Leu287= | |
| NM_138395.4:c.861C>T MANE Select | NP_612404.1:p.Leu287= |