Linked Data
ClinVar Variation Id:
1697561
ClinVar RCV Id:
RCV002268845
dbSNP Id:
rs121913243
gnomAD v4:
7-116777410-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116777410A>C , CM000669.2:g.116777410A>C | GRCh38 |
| NC_000007.13:g.116417464A>C , CM000669.1:g.116417464A>C | GRCh37 |
| NC_000007.12:g.116204700A>C | NCBI36 |
| NG_008996.1:g.110006A>C , LRG_662:g.110006A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000436117.3:c.*886A>C | ENSP00000410980.2:n.*886A>C | |
| ENST00000318493.11:c.3335A>C | ENSP00000317272.6:p.His1112Pro | |
| ENST00000397752.8:c.3281A>C MANE Select | ENSP00000380860.3:p.His1094Pro | |
| ENST00000318493.10:c.3335A>C | ENSP00000317272.6:p.His1112Pro | |
| ENST00000397752.7:c.3281A>C | ENSP00000380860.3:p.His1094Pro | |
| NM_000245.2:c.3281A>C | NP_000236.2:p.His1094Pro | |
| NM_001127500.1:c.3335A>C , LRG_662t1:c.3335A>C | NP_001120972.1:p.His1112Pro | |
| XM_006715990.2:c.1991A>C | XP_006716053.1:p.His664Pro | |
| XM_006715991.2:c.1991A>C | XP_006716054.1:p.His664Pro | |
| XM_011516223.1:c.3338A>C | XP_011514525.1:p.His1113Pro | |
| NM_000245.3:c.3281A>C | NP_000236.2:p.His1094Pro | |
| NM_001127500.2:c.3335A>C | NP_001120972.1:p.His1112Pro | |
| NM_001324402.1:c.1991A>C | NP_001311331.1:p.His664Pro | |
| XR_001744772.1:n.3412A>C | ||
| NM_001127500.3:c.3335A>C | NP_001120972.1:p.His1112Pro | |
| NM_000245.4:c.3281A>C MANE Select | NP_000236.2:p.His1094Pro | |
| NM_001324402.2:c.1991A>C | NP_001311331.1:p.His664Pro |