Linked Data
ClinVar Variation Id:
454229
dbSNP Id:
rs544081614
ExAC:
7:116411985 C / T
gnomAD v2:
7-116411985-C-T
gnomAD v3:
7-116771931-C-T
gnomAD v4:
7-116771931-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116771931C>T , CM000669.2:g.116771931C>T | GRCh38 |
| NC_000007.13:g.116411985C>T , CM000669.1:g.116411985C>T | GRCh37 |
| NC_000007.12:g.116199221C>T | NCBI36 |
| NG_008996.1:g.104527C>T , LRG_662:g.104527C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436117.3:c.*575C>T | ENSP00000410980.2:n.*575C>T | |
| ENST00000318493.11:c.3024C>T | ENSP00000317272.6:p.Ser1008= | |
| ENST00000397752.8:c.2970C>T MANE Select | ENSP00000380860.3:p.Ser990= | |
| ENST00000318493.10:c.3024C>T | ENSP00000317272.6:p.Ser1008= | |
| ENST00000397752.7:c.2970C>T | ENSP00000380860.3:p.Ser990= | |
| ENST00000454623.1:c.283+277C>T | ENSP00000398140.1:n.283+277C>T | |
| NM_000245.2:c.2970C>T | NP_000236.2:p.Ser990= | |
| NM_001127500.1:c.3024C>T , LRG_662t1:c.3024C>T | NP_001120972.1:p.Ser1008= | |
| XM_006715990.2:c.1680C>T | XP_006716053.1:p.Ser560= | |
| XM_006715991.2:c.1680C>T | XP_006716054.1:p.Ser560= | |
| XM_011516223.1:c.3027C>T | XP_011514525.1:p.Ser1009= | |
| NM_000245.3:c.2970C>T | NP_000236.2:p.Ser990= | |
| NM_001127500.2:c.3024C>T | NP_001120972.1:p.Ser1008= | |
| NM_001324402.1:c.1680C>T | NP_001311331.1:p.Ser560= | |
| XR_001744772.1:n.3101C>T | ||
| NM_001127500.3:c.3024C>T | NP_001120972.1:p.Ser1008= | |
| NM_000245.4:c.2970C>T MANE Select | NP_000236.2:p.Ser990= | |
| NM_001324402.2:c.1680C>T | NP_001311331.1:p.Ser560= |