Linked Data
ClinVar Variation Id:
310181
ClinVar RCV Id:
RCV000300641
dbSNP Id:
rs75568735
gnomAD v2:
12-65108873-G-A
gnomAD v3:
12-64715093-G-A
gnomAD v4:
12-64715093-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.64715093G>A , CM000674.2:g.64715093G>A | GRCh38 |
| NC_000012.11:g.65108873G>A , CM000674.1:g.65108873G>A | GRCh37 |
| NC_000012.10:g.63395140G>A | NCBI36 |
| NG_008955.1:g.49354C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258145.8:c.*1648C>T MANE Select | ENSP00000258145.3:n.*1648C>T | |
| ENST00000258145.7:c.*1648C>T | ENSP00000258145.3:n.*1648C>T | |
| ENST00000418919.6:c.*1648C>T | ENSP00000413130.2:n.*1648C>T | |
| NM_002076.3:c.*1648C>T | NP_002067.1:n.*1648C>T | |
| NM_002076.4:c.*1648C>T MANE Select | NP_002067.1:n.*1648C>T |