Linked Data
ClinVar Variation Id:
309547
ClinVar RCV Id:
RCV000267392
dbSNP Id:
rs550268995
gnomAD v2:
12-52908403-A-G
gnomAD v3:
12-52514619-A-G
gnomAD v4:
12-52514619-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52514619A>G , CM000674.2:g.52514619A>G | GRCh38 |
| NC_000012.11:g.52908403A>G , CM000674.1:g.52908403A>G | GRCh37 |
| NC_000012.10:g.51194670A>G | NCBI36 |
| NG_008297.1:g.10841T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.*323T>C MANE Select | ENSP00000252242.4:n.*323T>C | |
| ENST00000252242.8:c.*323T>C | ENSP00000252242.4:n.*323T>C | |
| NM_000424.3:c.*323T>C | NP_000415.2:n.*323T>C | |
| NM_000424.4:c.*323T>C MANE Select | NP_000415.2:n.*323T>C |