Linked Data
ClinVar Variation Id:
310184
ClinVar RCV Id:
RCV000324716
dbSNP Id:
rs1269548
gnomAD v2:
12-65109168-C-T
gnomAD v3:
12-64715388-C-T
gnomAD v4:
12-64715388-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.64715388C>T , CM000674.2:g.64715388C>T | GRCh38 |
| NC_000012.11:g.65109168C>T , CM000674.1:g.65109168C>T | GRCh37 |
| NC_000012.10:g.63395435C>T | NCBI36 |
| NG_008955.1:g.49059G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258145.8:c.*1353G>A MANE Select | ENSP00000258145.3:n.*1353G>A | |
| ENST00000258145.7:c.*1353G>A | ENSP00000258145.3:n.*1353G>A | |
| ENST00000418919.6:c.*1353G>A | ENSP00000413130.2:n.*1353G>A | |
| NM_002076.3:c.*1353G>A | NP_002067.1:n.*1353G>A | |
| NM_002076.4:c.*1353G>A MANE Select | NP_002067.1:n.*1353G>A |