Linked Data
ClinVar Variation Id:
1470365
ClinVar RCV Id:
RCV001964143
dbSNP Id:
rs2116993223
gnomAD v4:
7-116771645-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116771645C>A , CM000669.2:g.116771645C>A | GRCh38 |
| NC_000007.13:g.116411699C>A , CM000669.1:g.116411699C>A | GRCh37 |
| NC_000007.12:g.116198935C>A | NCBI36 |
| NG_008996.1:g.104241C>A , LRG_662:g.104241C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436117.3:c.*483C>A | ENSP00000410980.2:n.*483C>A | |
| ENST00000318493.11:c.2932C>A | ENSP00000317272.6:p.Gln978Lys | |
| ENST00000397752.8:c.2878C>A MANE Select | ENSP00000380860.3:p.Gln960Lys | |
| ENST00000318493.10:c.2932C>A | ENSP00000317272.6:p.Gln978Lys | |
| ENST00000397752.7:c.2878C>A | ENSP00000380860.3:p.Gln960Lys | |
| ENST00000454623.1:c.274C>A | ENSP00000398140.1:p.Gln92Lys | |
| NM_000245.2:c.2878C>A | NP_000236.2:p.Gln960Lys | |
| NM_001127500.1:c.2932C>A , LRG_662t1:c.2932C>A | NP_001120972.1:p.Gln978Lys | |
| XM_006715990.2:c.1588C>A | XP_006716053.1:p.Gln530Lys | |
| XM_006715991.2:c.1588C>A | XP_006716054.1:p.Gln530Lys | |
| XM_011516223.1:c.2935C>A | XP_011514525.1:p.Gln979Lys | |
| NM_000245.3:c.2878C>A | NP_000236.2:p.Gln960Lys | |
| NM_001127500.2:c.2932C>A | NP_001120972.1:p.Gln978Lys | |
| NM_001324402.1:c.1588C>A | NP_001311331.1:p.Gln530Lys | |
| XR_001744772.1:n.3009C>A | ||
| NM_001127500.3:c.2932C>A | NP_001120972.1:p.Gln978Lys | |
| NM_000245.4:c.2878C>A MANE Select | NP_000236.2:p.Gln960Lys | |
| NM_001324402.2:c.1588C>A | NP_001311331.1:p.Gln530Lys |