Linked Data
ClinVar Variation Id:
2168827
ClinVar RCV Id:
RCV003082767
dbSNP Id:
rs1951757516
gnomAD v4:
12-76346321-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76346321A>G , CM000674.2:g.76346321A>G | GRCh38 |
| NC_000012.11:g.76740101A>G , CM000674.1:g.76740101A>G | GRCh37 |
| NC_000012.10:g.75264232A>G | NCBI36 |
| NG_016357.1:g.7122T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.1664T>C MANE Select | ENSP00000497413.1:p.Ile555Thr | |
| ENST00000393262.3:c.1664T>C | ENSP00000376946.3:p.Ile555Thr | |
| NM_024685.3:c.1664T>C | NP_078961.3:p.Ile555Thr | |
| NM_024685.4:c.1664T>C MANE Select | NP_078961.3:p.Ile555Thr |