Linked Data
ClinVar Variation Id:
2657933
ClinVar RCV Id:
RCV003434093
dbSNP Id:
rs762987676
ExAC:
7:107556112 C / G
gnomAD v2:
7-107556112-C-G
gnomAD v4:
7-107915667-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107915667C>G , CM000669.2:g.107915667C>G | GRCh38 |
| NC_000007.13:g.107556112C>G , CM000669.1:g.107556112C>G | GRCh37 |
| NC_000007.12:g.107343348C>G | NCBI36 |
| NG_008045.1:g.29527C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205402.10:c.846C>G MANE Select | ENSP00000205402.3:p.Thr282= | |
| ENST00000205402.9:c.846C>G | ENSP00000205402.3:p.Thr282= | |
| ENST00000415325.5:c.*520C>G | ENSP00000402593.1:n.*520C>G | |
| ENST00000417551.5:c.846C>G | ENSP00000390667.1:p.Thr282= | |
| ENST00000437604.6:c.702C>G | ENSP00000387542.2:p.Thr234= | |
| ENST00000440410.5:c.777C>G | ENSP00000417016.1:p.Thr259= | |
| NM_000108.4:c.846C>G | NP_000099.2:p.Thr282= | |
| NM_001289750.1:c.549C>G | NP_001276679.1:p.Thr183= | |
| NM_001289751.1:c.777C>G | NP_001276680.1:p.Thr259= | |
| NM_001289752.1:c.702C>G | NP_001276681.1:p.Thr234= | |
| NM_000108.5:c.846C>G MANE Select | NP_000099.2:p.Thr282= |