Linked Data
ClinVar Variation Id:
1381632
ClinVar RCV Id:
RCV001895484
dbSNP Id:
rs779017131
gnomAD v2:
1-24192101-G-C
gnomAD v4:
1-23865611-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23865611G>C , CM000663.2:g.23865611G>C | GRCh38 |
| NC_000001.10:g.24192101G>C , CM000663.1:g.24192101G>C | GRCh37 |
| NC_000001.9:g.24064688G>C | NCBI36 |
| NG_013346.1:g.7759C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.404C>G MANE Select | ENSP00000363603.3:p.Thr135Arg | |
| ENST00000374479.3:c.404C>G | ENSP00000363603.3:p.Thr135Arg | |
| NM_000147.4:c.404C>G | NP_000138.2:p.Thr135Arg | |
| XM_005245821.1:c.29C>G | XP_005245878.1:p.Thr10Arg | |
| XM_011541167.1:c.-230C>G | XP_011539469.1:n.-230C>G | |
| XM_005245821.3:c.29C>G | XP_005245878.1:p.Thr10Arg | |
| XM_011541167.3:c.-230C>G | XP_011539469.1:n.-230C>G | |
| XM_017000905.2:c.101C>G | XP_016856394.1:p.Thr34Arg | |
| NM_000147.5:c.404C>G MANE Select | NP_000138.2:p.Thr135Arg | |
| NR_174379.1:n.582C>G | ||
| NR_174380.1:n.631C>G | ||
| NR_174381.1:n.470C>G | ||
| NR_174382.1:n.867C>G |