Linked Data
dbSNP Id:
rs770053738
ExAC:
10:69991229 T / G
gnomAD v2:
10-69991229-T-G
gnomAD v3:
10-68231472-T-G
gnomAD v4:
10-68231472-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68231472T>G , CM000672.2:g.68231472T>G | GRCh38 |
| NC_000010.10:g.69991229T>G , CM000672.1:g.69991229T>G | GRCh37 |
| NC_000010.9:g.69661235T>G | NCBI36 |
| NG_031934.1:g.5642A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.206A>C MANE Select | ENSP00000362777.3:p.Gln69Pro | |
| ENST00000373673.4:c.206A>C | ENSP00000362777.3:p.Gln69Pro | |
| NM_145178.3:c.206A>C | NP_660161.1:p.Gln69Pro | |
| NM_145178.4:c.206A>C MANE Select | NP_660161.1:p.Gln69Pro |