Linked Data
ClinVar Variation Id:
2150301
ClinVar RCV Id:
RCV003071842
dbSNP Id:
rs1018909711
gnomAD v4:
12-76346708-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76346708T>C , CM000674.2:g.76346708T>C | GRCh38 |
| NC_000012.11:g.76740488T>C , CM000674.1:g.76740488T>C | GRCh37 |
| NC_000012.10:g.75264619T>C | NCBI36 |
| NG_016357.1:g.6735A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650064.2:c.1277A>G MANE Select | ENSP00000497413.1:p.Lys426Arg | |
| ENST00000393262.3:c.1277A>G | ENSP00000376946.3:p.Lys426Arg | |
| NM_024685.3:c.1277A>G | NP_078961.3:p.Lys426Arg | |
| NM_024685.4:c.1277A>G MANE Select | NP_078961.3:p.Lys426Arg |