Linked Data
ClinVar Variation Id:
1103689
ClinVar RCV Id:
RCV001427495
dbSNP Id:
rs767657562
ExAC:
12:111350956 G / T
gnomAD v2:
12-111350956-G-T
gnomAD v4:
12-110913152-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110913152G>T , CM000674.2:g.110913152G>T | GRCh38 |
| NC_000012.11:g.111350956G>T , CM000674.1:g.111350956G>T | GRCh37 |
| NC_000012.10:g.109835339G>T | NCBI36 |
| NG_007554.1:g.12426C>A , LRG_393:g.12426C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.354-8C>A MANE Select | ENSP00000228841.8:n.354-8C>A | |
| ENST00000663220.1:c.297-8C>A | ENSP00000499568.1:n.297-8C>A | |
| ENST00000228841.12:c.354-8C>A | ENSP00000228841.7:n.354-8C>A | |
| ENST00000548438.1:c.312-8C>A | ENSP00000447154.1:n.312-8C>A | |
| ENST00000549029.1:n.278C>A | ||
| NM_000432.3:c.354-8C>A , LRG_393t1:c.354-8C>A | NP_000423.2:n.354-8C>A | |
| NM_000432.4:c.354-8C>A MANE Select | NP_000423.2:n.354-8C>A |