Linked Data
ClinVar Variation Id:
2981404
ClinVar RCV Id:
RCV003832546
dbSNP Id:
rs1307081148
gnomAD v2:
12-76739853-A-G
gnomAD v4:
12-76346073-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76346073A>G , CM000674.2:g.76346073A>G | GRCh38 |
| NC_000012.11:g.76739853A>G , CM000674.1:g.76739853A>G | GRCh37 |
| NC_000012.10:g.75263984A>G | NCBI36 |
| NG_016357.1:g.7370T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.1912T>C MANE Select | ENSP00000497413.1:p.Leu638= | |
| ENST00000393262.3:c.1912T>C | ENSP00000376946.3:p.Leu638= | |
| NM_024685.3:c.1912T>C | NP_078961.3:p.Leu638= | |
| NM_024685.4:c.1912T>C MANE Select | NP_078961.3:p.Leu638= |