Linked Data
ClinVar Variation Id:
2732051
ClinVar RCV Id:
RCV003516222
dbSNP Id:
rs186323458
gnomAD v2:
12-111351038-G-A
gnomAD v4:
12-110913234-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110913234G>A , CM000674.2:g.110913234G>A | GRCh38 |
| NC_000012.11:g.111351038G>A , CM000674.1:g.111351038G>A | GRCh37 |
| NC_000012.10:g.109835421G>A | NCBI36 |
| NG_007554.1:g.12344C>T , LRG_393:g.12344C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.353+12C>T MANE Select | ENSP00000228841.8:n.353+12C>T | |
| ENST00000663220.1:c.296+12C>T | ENSP00000499568.1:n.296+12C>T | |
| ENST00000228841.12:c.353+12C>T | ENSP00000228841.7:n.353+12C>T | |
| ENST00000548438.1:c.311+12C>T | ENSP00000447154.1:n.311+12C>T | |
| ENST00000549029.1:n.196C>T | ||
| NM_000432.3:c.353+12C>T , LRG_393t1:c.353+12C>T | NP_000423.2:n.353+12C>T | |
| NM_000432.4:c.353+12C>T MANE Select | NP_000423.2:n.353+12C>T |