Linked Data
dbSNP Id:
rs1265751197
gnomAD v2:
12-5021284-C-G
gnomAD v3:
12-4912118-C-G
gnomAD v4:
12-4912118-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912118C>G , CM000674.2:g.4912118C>G | GRCh38 |
| NC_000012.11:g.5021284C>G , CM000674.1:g.5021284C>G | GRCh37 |
| NC_000012.10:g.4891545C>G | NCBI36 |
| NG_011815.1:g.7212C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.740C>G MANE Select | ENSP00000371985.3:p.Thr247Arg | |
| ENST00000543874.3:n.105+1646C>G | ||
| ENST00000639306.1:c.578C>G | ENSP00000492506.1:p.Thr193Arg | |
| ENST00000382545.3:c.740C>G | ENSP00000371985.3:p.Thr247Arg | |
| ENST00000541095.1:n.105+1646C>G | ||
| ENST00000543874.2:n.96+1646C>G | ||
| NM_000217.2:c.740C>G | NP_000208.2:p.Thr247Arg | |
| NM_000217.3:c.740C>G MANE Select | NP_000208.2:p.Thr247Arg |