Linked Data
ClinVar Variation Id:
5492
ClinVar RCV Id:
RCV000005827
dbSNP Id:
rs7794745
gnomAD v2:
7-146489606-A-T
gnomAD v3:
7-146792514-A-T
gnomAD v4:
7-146792514-A-T
PubMed:
PMID:18179894
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.146792514A>T , CM000669.2:g.146792514A>T | GRCh38 |
| NC_000007.13:g.146489606A>T , CM000669.1:g.146489606A>T | GRCh37 |
| NC_000007.12:g.146120539A>T | NCBI36 |
| NG_007092.2:g.681154A>T | |
| NG_007092.3:g.681514A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361727.8:c.208+18133A>T MANE Select | ENSP00000354778.3:n.208+18133A>T | |
| ENST00000636561.1:n.111+18133A>T | ||
| ENST00000637150.1:n.137+18133A>T | ||
| ENST00000637694.1:n.111+18133A>T | ||
| ENST00000638117.1:n.111+18133A>T | ||
| ENST00000361727.7:c.208+18133A>T | ENSP00000354778.3:n.208+18133A>T | |
| ENST00000625365.2:c.208+18133A>T | ENSP00000485955.1:n.208+18133A>T | |
| NM_014141.5:c.208+18133A>T | NP_054860.1:n.208+18133A>T | |
| XM_017011950.2:c.208+18133A>T | XP_016867439.1:n.208+18133A>T | |
| NM_014141.6:c.208+18133A>T MANE Select | NP_054860.1:n.208+18133A>T |