Linked Data
ClinVar Variation Id:
897195
ClinVar RCV Id:
RCV001140346
dbSNP Id:
rs750310194
gnomAD v3:
2-43887228-C-T
gnomAD v4:
2-43887228-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43887228C>T , CM000664.2:g.43887228C>T | GRCh38 |
| NC_000002.11:g.44114367C>T , CM000664.1:g.44114367C>T | GRCh37 |
| NC_000002.10:g.43967871C>T | NCBI36 |
| NG_008247.1:g.113778G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682612.1:c.2324G>A | ||
| ENST00000684454.1:n.9421G>A | ||
| ENST00000260665.12:c.*1372G>A MANE Select | ENSP00000260665.7:n.*1372G>A | |
| ENST00000260665.11:c.*1372G>A | ENSP00000260665.7:n.*1372G>A | |
| NM_133259.3:c.*1372G>A | NP_573566.2:n.*1372G>A | |
| XR_002958896.1:n.5739G>A | ||
| NM_133259.4:c.*1372G>A MANE Select | NP_573566.2:n.*1372G>A |