Linked Data
ClinVar Variation Id:
16412
ClinVar RCV Id:
RCV000017874
dbSNP Id:
rs121909614
gnomAD v2:
4-155510653-A-T
gnomAD v4:
4-154589501-A-T
PubMed:
PMID:8675656
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154589501A>T , CM000666.2:g.154589501A>T | GRCh38 |
| NC_000004.11:g.155510653A>T , CM000666.1:g.155510653A>T | GRCh37 |
| NC_000004.10:g.155730103A>T | NCBI36 |
| NG_008832.1:g.6245T>A , LRG_557:g.6245T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651975.2:c.116T>A | ENSP00000498441.1:p.Val39Asp | |
| ENST00000403106.8:c.116T>A MANE Select | ENSP00000385981.3:p.Val39Asp | |
| ENST00000651975.1:c.116T>A | ENSP00000498441.1:p.Val39Asp | |
| ENST00000302053.7:c.116T>A | ENSP00000306361.3:p.Val39Asp | |
| ENST00000403106.7:c.116T>A | ENSP00000385981.3:p.Val39Asp | |
| ENST00000622532.1:c.116T>A | ENSP00000478487.1:p.Val39Asp | |
| NM_000508.3:c.116T>A , LRG_557t1:c.116T>A | NP_000499.1:p.Val39Asp | |
| NM_021871.2:c.116T>A , LRG_557t2:c.116T>A | NP_068657.1:p.Val39Asp | |
| NM_000508.4:c.116T>A | NP_000499.1:p.Val39Asp | |
| NM_021871.3:c.116T>A | NP_068657.1:p.Val39Asp | |
| NM_021871.4:c.116T>A MANE Select | NP_068657.1:p.Val39Asp | |
| NM_000508.5:c.116T>A | NP_000499.1:p.Val39Asp |