Linked Data
ClinVar Variation Id:
2832924
ClinVar RCV Id:
RCV003634957
dbSNP Id:
rs779691612
gnomAD v2:
12-76739836-G-T
gnomAD v4:
12-76346056-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76346056G>T , CM000674.2:g.76346056G>T | GRCh38 |
| NC_000012.11:g.76739836G>T , CM000674.1:g.76739836G>T | GRCh37 |
| NC_000012.10:g.75263967G>T | NCBI36 |
| NG_016357.1:g.7387C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.1929C>A MANE Select | ENSP00000497413.1:p.Val643= | |
| ENST00000393262.3:c.1929C>A | ENSP00000376946.3:p.Val643= | |
| NM_024685.3:c.1929C>A | NP_078961.3:p.Val643= | |
| NM_024685.4:c.1929C>A MANE Select | NP_078961.3:p.Val643= |