Linked Data
ClinVar Variation Id:
1520569
ClinVar RCV Id:
RCV002030834
dbSNP Id:
rs2116993238
gnomAD v4:
7-116771647-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116771647A>T , CM000669.2:g.116771647A>T | GRCh38 |
| NC_000007.13:g.116411701A>T , CM000669.1:g.116411701A>T | GRCh37 |
| NC_000007.12:g.116198937A>T | NCBI36 |
| NG_008996.1:g.104243A>T , LRG_662:g.104243A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436117.3:c.*485A>T | ENSP00000410980.2:n.*485A>T | |
| ENST00000318493.11:c.2934A>T | ENSP00000317272.6:p.Gln978His | |
| ENST00000397752.8:c.2880A>T MANE Select | ENSP00000380860.3:p.Gln960His | |
| ENST00000318493.10:c.2934A>T | ENSP00000317272.6:p.Gln978His | |
| ENST00000397752.7:c.2880A>T | ENSP00000380860.3:p.Gln960His | |
| ENST00000454623.1:c.276A>T | ENSP00000398140.1:p.Gln92His | |
| NM_000245.2:c.2880A>T | NP_000236.2:p.Gln960His | |
| NM_001127500.1:c.2934A>T , LRG_662t1:c.2934A>T | NP_001120972.1:p.Gln978His | |
| XM_006715990.2:c.1590A>T | XP_006716053.1:p.Gln530His | |
| XM_006715991.2:c.1590A>T | XP_006716054.1:p.Gln530His | |
| XM_011516223.1:c.2937A>T | XP_011514525.1:p.Gln979His | |
| NM_000245.3:c.2880A>T | NP_000236.2:p.Gln960His | |
| NM_001127500.2:c.2934A>T | NP_001120972.1:p.Gln978His | |
| NM_001324402.1:c.1590A>T | NP_001311331.1:p.Gln530His | |
| XR_001744772.1:n.3011A>T | ||
| NM_001127500.3:c.2934A>T | NP_001120972.1:p.Gln978His | |
| NM_000245.4:c.2880A>T MANE Select | NP_000236.2:p.Gln960His | |
| NM_001324402.2:c.1590A>T | NP_001311331.1:p.Gln530His |