Linked Data
ClinVar Variation Id:
1129400
ClinVar RCV Id:
RCV001462505
dbSNP Id:
rs376793096
gnomAD v4:
12-76346158-C-T
MyVariant Identifiers:
chr12:g.76739938C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76346158C>T , CM000674.2:g.76346158C>T | GRCh38 |
| NC_000012.11:g.76739938C>T , CM000674.1:g.76739938C>T | GRCh37 |
| NC_000012.10:g.75264069C>T | NCBI36 |
| NG_016357.1:g.7285G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650064.2:c.1827G>A MANE Select | ENSP00000497413.1:p.Leu609= | |
| ENST00000393262.3:c.1827G>A | ENSP00000376946.3:p.Leu609= | |
| NM_024685.3:c.1827G>A | NP_078961.3:p.Leu609= | |
| NM_024685.4:c.1827G>A MANE Select | NP_078961.3:p.Leu609= |