Linked Data
ClinVar Variation Id:
307014
ClinVar RCV Id:
RCV000358133
dbSNP Id:
rs778528128
gnomAD v2:
12-109992214-T-A
gnomAD v3:
12-109554409-T-A
gnomAD v4:
12-109554409-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109554409T>A , CM000674.2:g.109554409T>A | GRCh38 |
| NC_000012.11:g.109992214T>A , CM000674.1:g.109992214T>A | GRCh37 |
| NC_000012.10:g.108476597T>A | NCBI36 |
| NG_007096.1:g.24089A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.*2619A>T MANE Select | ENSP00000445920.1:n.*2619A>T | |
| ENST00000545712.6:c.*2619A>T | ENSP00000445920.1:n.*2619A>T | |
| NM_052845.3:c.*2619A>T | NP_443077.1:n.*2619A>T | |
| NR_038118.1:n.3532A>T | ||
| NM_052845.4:c.*2619A>T MANE Select | NP_443077.1:n.*2619A>T | |
| NR_038118.2:n.3483A>T |