Linked Data
ClinVar Variation Id:
1465382
dbSNP Id:
rs777980928
ExAC:
12:50501455 A / C
gnomAD v2:
12-50501455-A-C
gnomAD v3:
12-50107672-A-C
gnomAD v4:
12-50107672-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.50107672A>C , CM000674.2:g.50107672A>C | GRCh38 |
| NC_000012.11:g.50501455A>C , CM000674.1:g.50501455A>C | GRCh37 |
| NC_000012.10:g.48787722A>C | NCBI36 |
| NG_032155.1:g.692A>C | |
| NG_032168.1:g.8854A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301149.8:c.718A>C MANE Select | ENSP00000301149.3:p.Lys240Gln | |
| ENST00000301149.7:c.718A>C | ENSP00000301149.3:p.Lys240Gln | |
| ENST00000547190.5:n.656-352A>C | ||
| ENST00000548814.1:c.649A>C | ENSP00000446768.1:p.Lys217Gln | |
| NM_001257199.1:c.649A>C | NP_001244128.1:p.Lys217Gln | |
| NM_005276.3:c.718A>C | NP_005267.2:p.Lys240Gln | |
| NM_005276.4:c.718A>C MANE Select | NP_005267.2:p.Lys240Gln | |
| NM_001257199.2:c.649A>C | NP_001244128.1:p.Lys217Gln |