Linked Data
ClinVar Variation Id:
2041191
ClinVar RCV Id:
RCV002912918
gnomAD v4:
12-76346116-T-C
MyVariant Identifiers:
chr12:g.76739896T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76346116T>C , CM000674.2:g.76346116T>C | GRCh38 |
| NC_000012.11:g.76739896T>C , CM000674.1:g.76739896T>C | GRCh37 |
| NC_000012.10:g.75264027T>C | NCBI36 |
| NG_016357.1:g.7327A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.1869A>G MANE Select | ENSP00000497413.1:p.Gln623= | |
| ENST00000393262.3:c.1869A>G | ENSP00000376946.3:p.Gln623= | |
| NM_024685.3:c.1869A>G | NP_078961.3:p.Gln623= | |
| NM_024685.4:c.1869A>G MANE Select | NP_078961.3:p.Gln623= |