Linked Data
ClinVar Variation Id:
310188
ClinVar RCV Id:
RCV000384796
dbSNP Id:
rs886049765
gnomAD v2:
12-65109675-G-A
gnomAD v3:
12-64715895-G-A
gnomAD v4:
12-64715895-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.64715895G>A , CM000674.2:g.64715895G>A | GRCh38 |
| NC_000012.11:g.65109675G>A , CM000674.1:g.65109675G>A | GRCh37 |
| NC_000012.10:g.63395942G>A | NCBI36 |
| NG_008955.1:g.48552C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258145.8:c.*846C>T MANE Select | ENSP00000258145.3:n.*846C>T | |
| ENST00000258145.7:c.*846C>T | ENSP00000258145.3:n.*846C>T | |
| ENST00000418919.6:c.*846C>T | ENSP00000413130.2:n.*846C>T | |
| NM_002076.3:c.*846C>T | NP_002067.1:n.*846C>T | |
| NM_002076.4:c.*846C>T MANE Select | NP_002067.1:n.*846C>T |