Linked Data
ClinVar Variation Id:
518247
dbSNP Id:
rs572363699
ExAC:
12:111351034 C / T
gnomAD v2:
12-111351034-C-T
gnomAD v3:
12-110913230-C-T
gnomAD v4:
12-110913230-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110913230C>T , CM000674.2:g.110913230C>T | GRCh38 |
| NC_000012.11:g.111351034C>T , CM000674.1:g.111351034C>T | GRCh37 |
| NC_000012.10:g.109835417C>T | NCBI36 |
| NG_007554.1:g.12348G>A , LRG_393:g.12348G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.353+16G>A MANE Select | ENSP00000228841.8:n.353+16G>A | |
| ENST00000663220.1:c.296+16G>A | ENSP00000499568.1:n.296+16G>A | |
| ENST00000228841.12:c.353+16G>A | ENSP00000228841.7:n.353+16G>A | |
| ENST00000548438.1:c.311+16G>A | ENSP00000447154.1:n.311+16G>A | |
| ENST00000549029.1:n.200G>A | ||
| NM_000432.3:c.353+16G>A , LRG_393t1:c.353+16G>A | NP_000423.2:n.353+16G>A | |
| NM_000432.4:c.353+16G>A MANE Select | NP_000423.2:n.353+16G>A |