Linked Data
ClinVar Variation Id:
130763
dbSNP Id:
rs1800389
ExAC:
8:30924557 C / T
gnomAD v2:
8-30924557-C-T
gnomAD v3:
8-31067041-C-T
gnomAD v4:
8-31067041-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31067041C>T , CM000670.2:g.31067041C>T | GRCh38 |
| NC_000008.10:g.30924557C>T , CM000670.1:g.30924557C>T | GRCh37 |
| NC_000008.9:g.31044099C>T | NCBI36 |
| NG_008870.1:g.38780C>T , LRG_524:g.38780C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.513C>T MANE Select | ENSP00000298139.5:p.Cys171= | |
| ENST00000650667.1:c.*127C>T | ENSP00000498593.1:n.*127C>T | |
| ENST00000298139.5:c.513C>T | ENSP00000298139.5:p.Cys171= | |
| NM_000553.4:c.513C>T , LRG_524t1:c.513C>T | NP_000544.2:p.Cys171= | |
| XM_011544639.1:c.513C>T | XP_011542941.1:p.Cys171= | |
| XR_949470.1:n.786C>T | ||
| XR_949471.1:n.786C>T | ||
| XR_949472.1:n.786C>T | ||
| NM_000553.5:c.513C>T | NP_000544.2:p.Cys171= | |
| XM_011544639.3:c.513C>T | XP_011542941.1:p.Cys171= | |
| XM_024447265.1:c.303C>T | XP_024303033.1:p.Cys101= | |
| XR_949470.3:n.814C>T | ||
| XR_949471.3:n.814C>T | ||
| XR_949472.3:n.814C>T | ||
| NM_000553.6:c.513C>T MANE Select | NP_000544.2:p.Cys171= |