Linked Data
ClinVar Variation Id:
719285
ClinVar RCV Id:
RCV000892399
dbSNP Id:
rs117182553
ExAC:
12:120622028 C / T
gnomAD v2:
12-120622028-C-T
gnomAD v3:
12-120184225-C-T
gnomAD v4:
12-120184225-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120184225C>T , CM000674.2:g.120184225C>T | GRCh38 |
| NC_000012.11:g.120622028C>T , CM000674.1:g.120622028C>T | GRCh37 |
| NC_000012.10:g.119106411C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300648.7:c.204G>A MANE Select | ENSP00000300648.6:p.Arg68= | |
| ENST00000300648.6:c.204G>A | ENSP00000300648.6:p.Arg68= | |
| NM_006836.1:c.204G>A | NP_006827.1:p.Arg68= | |
| NM_006836.2:c.204G>A MANE Select | NP_006827.1:p.Arg68= |