Linked Data
ClinVar Variation Id:
3008075
ClinVar RCV Id:
RCV003866738
dbSNP Id:
rs760273359
ExAC:
2:198571005 C / T
gnomAD v3:
2-197706281-C-T
gnomAD v4:
2-197706281-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.197706281C>T , CM000664.2:g.197706281C>T | GRCh38 |
| NC_000002.11:g.198571005C>T , CM000664.1:g.198571005C>T | GRCh37 |
| NC_000002.10:g.198279250C>T | NCBI36 |
| NG_034122.1:g.5978C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282276.8:c.876C>T MANE Select | ENSP00000282276.6:p.Tyr292= | |
| ENST00000282276.7:c.876C>T | ENSP00000282276.6:p.Tyr292= | |
| NM_138395.3:c.876C>T | NP_612404.1:p.Tyr292= | |
| NM_138395.4:c.876C>T MANE Select | NP_612404.1:p.Tyr292= |