Linked Data
dbSNP Id:
rs747549064
ExAC:
10:69991089 A / C
gnomAD v2:
10-69991089-A-C
gnomAD v3:
10-68231332-A-C
gnomAD v4:
10-68231332-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68231332A>C , CM000672.2:g.68231332A>C | GRCh38 |
| NC_000010.10:g.69991089A>C , CM000672.1:g.69991089A>C | GRCh37 |
| NC_000010.9:g.69661095A>C | NCBI36 |
| NG_031934.1:g.5782T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.346T>G MANE Select | ENSP00000362777.3:p.Phe116Val | |
| ENST00000373673.4:c.346T>G | ENSP00000362777.3:p.Phe116Val | |
| NM_145178.3:c.346T>G | NP_660161.1:p.Phe116Val | |
| NM_145178.4:c.346T>G MANE Select | NP_660161.1:p.Phe116Val |