Linked Data
ClinVar Variation Id:
310794
ClinVar RCV Id:
RCV000401892
dbSNP Id:
rs886049918
gnomAD v3:
12-98593684-G-T
gnomAD v4:
12-98593684-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.98593684G>T , CM000674.2:g.98593684G>T | GRCh38 |
| NC_000012.11:g.98987462G>T , CM000674.1:g.98987462G>T | GRCh37 |
| NC_000012.10:g.97511593G>T | NCBI36 |
| NG_011702.1:g.5060G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000188376.9:c.-295G>T | ENSP00000188376.5:n.-295G>T | |
| ENST00000228318.7:c.-61G>T | ENSP00000228318.3:n.-61G>T | |
| ENST00000401722.7:c.-57G>T | ENSP00000383898.3:n.-57G>T | |
| ENST00000546766.5:n.30G>T | ||
| ENST00000548046.5:c.-61G>T | ENSP00000447339.1:n.-61G>T | |
| ENST00000551917.5:c.-57G>T | ENSP00000447310.1:n.-57G>T | |
| ENST00000552981.5:c.-61G>T | ENSP00000448708.1:n.-61G>T | |
| NM_002635.3:c.-61G>T | NP_002626.1:n.-61G>T | |
| NM_005888.3:c.-61G>T | NP_005879.1:n.-61G>T | |
| NM_213611.2:c.-295G>T | NP_998776.1:n.-295G>T |