Linked Data
ClinVar Variation Id:
18249
ClinVar RCV Id:
RCV001198599
dbSNP Id:
rs121912683
gnomAD v2:
4-186066174-C-A
gnomAD v3:
4-185145020-C-A
gnomAD v4:
4-185145020-C-A
PubMed:
PMID:16155110
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185145020C>A , CM000666.2:g.185145020C>A | GRCh38 |
| NC_000004.11:g.186066174C>A , CM000666.1:g.186066174C>A | GRCh37 |
| NC_000004.10:g.186303168C>A | NCBI36 |
| NG_013001.1:g.6758C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281456.11:c.368C>A MANE Select | ENSP00000281456.5:p.Ala123Asp | |
| ENST00000281456.10:c.368C>A | ENSP00000281456.5:p.Ala123Asp | |
| ENST00000491736.1:c.368C>A | ENSP00000476711.1:p.Ala123Asp | |
| NM_001151.3:c.368C>A | NP_001142.2:p.Ala123Asp | |
| NM_001151.4:c.368C>A MANE Select | NP_001142.2:p.Ala123Asp |