Linked Data
ClinVar Variation Id:
1504608
ClinVar RCV Id:
RCV002028928
dbSNP Id:
rs780819058
ExAC:
7:116411927 A / G
gnomAD v2:
7-116411927-A-G
gnomAD v4:
7-116771873-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116771873A>G , CM000669.2:g.116771873A>G | GRCh38 |
| NC_000007.13:g.116411927A>G , CM000669.1:g.116411927A>G | GRCh37 |
| NC_000007.12:g.116199163A>G | NCBI36 |
| NG_008996.1:g.104469A>G , LRG_662:g.104469A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436117.3:c.*517A>G | ENSP00000410980.2:n.*517A>G | |
| ENST00000318493.11:c.2966A>G | ENSP00000317272.6:p.Tyr989Cys | |
| ENST00000397752.8:c.2912A>G MANE Select | ENSP00000380860.3:p.Tyr971Cys | |
| ENST00000318493.10:c.2966A>G | ENSP00000317272.6:p.Tyr989Cys | |
| ENST00000397752.7:c.2912A>G | ENSP00000380860.3:p.Tyr971Cys | |
| ENST00000454623.1:c.283+219A>G | ENSP00000398140.1:n.283+219A>G | |
| NM_000245.2:c.2912A>G | NP_000236.2:p.Tyr971Cys | |
| NM_001127500.1:c.2966A>G , LRG_662t1:c.2966A>G | NP_001120972.1:p.Tyr989Cys | |
| XM_006715990.2:c.1622A>G | XP_006716053.1:p.Tyr541Cys | |
| XM_006715991.2:c.1622A>G | XP_006716054.1:p.Tyr541Cys | |
| XM_011516223.1:c.2969A>G | XP_011514525.1:p.Tyr990Cys | |
| NM_000245.3:c.2912A>G | NP_000236.2:p.Tyr971Cys | |
| NM_001127500.2:c.2966A>G | NP_001120972.1:p.Tyr989Cys | |
| NM_001324402.1:c.1622A>G | NP_001311331.1:p.Tyr541Cys | |
| XR_001744772.1:n.3043A>G | ||
| NM_001127500.3:c.2966A>G | NP_001120972.1:p.Tyr989Cys | |
| NM_000245.4:c.2912A>G MANE Select | NP_000236.2:p.Tyr971Cys | |
| NM_001324402.2:c.1622A>G | NP_001311331.1:p.Tyr541Cys |