Linked Data
ClinVar Variation Id:
769781
ClinVar RCV Id:
RCV000948844
dbSNP Id:
rs186499075
ExAC:
10:72015190 C / T
gnomAD v2:
10-72015190-C-T
gnomAD v3:
10-70255434-C-T
gnomAD v4:
10-70255434-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70255434C>T , CM000672.2:g.70255434C>T | GRCh38 |
| NC_000010.10:g.72015190C>T , CM000672.1:g.72015190C>T | GRCh37 |
| NC_000010.9:g.71685196C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000277942.7:c.816G>A MANE Select | ENSP00000277942.5:p.Leu272= | |
| ENST00000277942.6:c.816G>A | ENSP00000277942.5:p.Leu272= | |
| NM_022146.4:c.816G>A | NP_071429.1:p.Leu272= | |
| NM_022146.5:c.816G>A MANE Select | NP_071429.1:p.Leu272= |