Linked Data
ClinVar Variation Id:
29742
dbSNP Id:
rs5848
gnomAD v2:
17-42430244-C-T
gnomAD v3:
17-44352876-C-T
gnomAD v4:
17-44352876-C-T
PubMed:
PMID:18723524
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44352876C>T , CM000679.2:g.44352876C>T | GRCh38 |
| NC_000017.10:g.42430244C>T , CM000679.1:g.42430244C>T | GRCh37 |
| NC_000017.9:g.39785770C>T | NCBI36 |
| NG_007886.1:g.12754C>T , LRG_661:g.12754C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000053867.8:c.*78C>T MANE Select | ENSP00000053867.2:n.*78C>T | |
| ENST00000053867.7:c.*78C>T | ENSP00000053867.2:n.*78C>T | |
| ENST00000586242.1:c.439C>T | ||
| ENST00000586443.1:c.1390C>T | ||
| ENST00000589265.5:c.*78C>T | ENSP00000467616.1:n.*78C>T | |
| NM_002087.3:c.*78C>T | NP_002078.1:n.*78C>T | |
| XM_005257253.1:c.*78C>T | XP_005257310.1:n.*78C>T | |
| XM_024450730.1:c.*78C>T | XP_024306498.1:n.*78C>T | |
| NM_002087.4:c.*78C>T MANE Select | NP_002078.1:n.*78C>T |