Linked Data
ClinVar Variation Id:
2149724
ClinVar RCV Id:
RCV003083238
dbSNP Id:
rs777236242
ExAC:
10:30602861 T / C
gnomAD v2:
10-30602861-T-C
gnomAD v4:
10-30313932-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313932T>C , CM000672.2:g.30313932T>C | GRCh38 |
| NC_000010.10:g.30602861T>C , CM000672.1:g.30602861T>C | GRCh37 |
| NC_000010.9:g.30642867T>C | NCBI36 |
| NG_028096.1:g.40407A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263063.9:c.1426A>G MANE Select | ENSP00000263063.3:p.Ile476Val | |
| ENST00000263063.8:c.1426A>G | ENSP00000263063.3:p.Ile476Val | |
| ENST00000488290.5:n.3181A>G | ||
| NM_018109.3:c.1426A>G | NP_060579.3:p.Ile476Val | |
| NM_018109.4:c.1426A>G MANE Select | NP_060579.3:p.Ile476Val |