Linked Data
ClinVar Variation Id:
310204
ClinVar RCV Id:
RCV000328535
dbSNP Id:
rs142001509
ExAC:
12:65110484 C / A
gnomAD v2:
12-65110484-C-A
gnomAD v3:
12-64716704-C-A
gnomAD v4:
12-64716704-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.64716704C>A , CM000674.2:g.64716704C>A | GRCh38 |
| NC_000012.11:g.65110484C>A , CM000674.1:g.65110484C>A | GRCh37 |
| NC_000012.10:g.63396751C>A | NCBI36 |
| NG_008955.1:g.47743G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258145.8:c.*37G>T MANE Select | ENSP00000258145.3:n.*37G>T | |
| ENST00000258145.7:c.*37G>T | ENSP00000258145.3:n.*37G>T | |
| ENST00000418919.6:c.*37G>T | ENSP00000413130.2:n.*37G>T | |
| ENST00000541781.5:n.1751G>T | ||
| ENST00000542058.5:c.*37G>T | ENSP00000444819.1:n.*37G>T | |
| ENST00000543646.5:c.*37G>T | ENSP00000438497.1:n.*37G>T | |
| NM_002076.3:c.*37G>T | NP_002067.1:n.*37G>T | |
| NM_002076.4:c.*37G>T MANE Select | NP_002067.1:n.*37G>T |