Linked Data
ClinVar Variation Id:
1131613
ClinVar RCV Id:
RCV001465553
dbSNP Id:
rs747553162
ExAC:
12:76739599 T / C
gnomAD v2:
12-76739599-T-C
gnomAD v3:
12-76345819-T-C
gnomAD v4:
12-76345819-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76345819T>C , CM000674.2:g.76345819T>C | GRCh38 |
| NC_000012.11:g.76739599T>C , CM000674.1:g.76739599T>C | GRCh37 |
| NC_000012.10:g.75263730T>C | NCBI36 |
| NG_016357.1:g.7624A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.2166A>G MANE Select | ENSP00000497413.1:p.Glu722= | |
| ENST00000393262.3:c.2166A>G | ENSP00000376946.3:p.Glu722= | |
| NM_024685.3:c.2166A>G | NP_078961.3:p.Glu722= | |
| NM_024685.4:c.2166A>G MANE Select | NP_078961.3:p.Glu722= |