Linked Data
ClinVar Variation Id:
464509
dbSNP Id:
rs35909818
ExAC:
12:119617383 C / A
gnomAD v2:
12-119617383-C-A
gnomAD v3:
12-119179578-C-A
gnomAD v4:
12-119179578-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.119179578C>A , CM000674.2:g.119179578C>A | GRCh38 |
| NC_000012.11:g.119617383C>A , CM000674.1:g.119617383C>A | GRCh37 |
| NC_000012.10:g.118101766C>A | NCBI36 |
| NG_007953.2:g.5789C>A , LRG_249:g.5789C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281938.7:c.266C>A MANE Select | ENSP00000281938.3:p.Pro89Gln | |
| ENST00000674542.1:c.266C>A | ENSP00000502352.1:p.Pro89Gln | |
| ENST00000676244.1:n.73+5580C>A | ||
| ENST00000281938.6:c.266C>A | ENSP00000281938.2:p.Pro89Gln | |
| NM_014365.2:c.266C>A , LRG_249t1:c.266C>A | NP_055180.1:p.Pro89Gln | |
| NM_014365.3:c.266C>A MANE Select | NP_055180.1:p.Pro89Gln |