Linked Data
ClinVar Variation Id:
306646
ClinVar RCV Id:
RCV000371762
dbSNP Id:
rs56156523
gnomAD v2:
12-100814754-A-T
gnomAD v3:
12-100420976-A-T
gnomAD v4:
12-100420976-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.100420976A>T , CM000674.2:g.100420976A>T | GRCh38 |
| NC_000012.11:g.100814754A>T , CM000674.1:g.100814754A>T | GRCh37 |
| NC_000012.10:g.99338885A>T | NCBI36 |
| NG_021175.1:g.68898A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323346.10:c.*817A>T MANE Select | ENSP00000316909.4:n.*817A>T | |
| ENST00000323346.9:c.*817A>T | ENSP00000316909.4:n.*817A>T | |
| NM_001145288.1:c.*817A>T | NP_001138760.1:n.*817A>T | |
| NM_139319.2:c.*817A>T | NP_647480.1:n.*817A>T | |
| NM_001145288.2:c.*817A>T | NP_001138760.1:n.*817A>T | |
| NM_139319.3:c.*817A>T MANE Select | NP_647480.1:n.*817A>T |