Linked Data
ClinVar Variation Id:
540138
ClinVar RCV Id:
RCV000650078
dbSNP Id:
rs933199729
gnomAD v2:
18-19751305-C-G
gnomAD v3:
18-22171344-C-G
gnomAD v4:
18-22171344-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.22171344C>G , CM000680.2:g.22171344C>G | GRCh38 |
| NC_000018.9:g.19751305C>G , CM000680.1:g.19751305C>G | GRCh37 |
| NC_000018.8:g.18005303C>G | NCBI36 |
| NG_032677.1:g.6902C>G | |
| NG_032677.2:g.6908C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269216.10:c.200C>G MANE Select | ENSP00000269216.3:p.Thr67Arg | |
| ENST00000269216.7:c.200C>G | ENSP00000269216.3:p.Thr67Arg | |
| ENST00000581694.1:c.200C>G | ENSP00000462313.1:p.Thr67Arg | |
| NM_005257.5:c.200C>G | NP_005248.2:p.Thr67Arg | |
| NM_005257.6:c.200C>G MANE Select | NP_005248.2:p.Thr67Arg |