Linked Data
ClinVar Variation Id:
310203
ClinVar RCV Id:
RCV000264136
dbSNP Id:
rs768957003
gnomAD v2:
12-65110369-C-T
gnomAD v3:
12-64716589-C-T
gnomAD v4:
12-64716589-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.64716589C>T , CM000674.2:g.64716589C>T | GRCh38 |
| NC_000012.11:g.65110369C>T , CM000674.1:g.65110369C>T | GRCh37 |
| NC_000012.10:g.63396636C>T | NCBI36 |
| NG_008955.1:g.47858G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258145.8:c.*152G>A MANE Select | ENSP00000258145.3:n.*152G>A | |
| ENST00000258145.7:c.*152G>A | ENSP00000258145.3:n.*152G>A | |
| ENST00000418919.6:c.*152G>A | ENSP00000413130.2:n.*152G>A | |
| ENST00000542058.5:c.*152G>A | ENSP00000444819.1:n.*152G>A | |
| ENST00000543646.5:c.*152G>A | ENSP00000438497.1:n.*152G>A | |
| NM_002076.3:c.*152G>A | NP_002067.1:n.*152G>A | |
| NM_002076.4:c.*152G>A MANE Select | NP_002067.1:n.*152G>A |