Linked Data
ClinVar Variation Id:
16410
dbSNP Id:
rs121909612
gnomAD v2:
4-155506947-T-A
gnomAD v3:
4-154585795-T-A
gnomAD v4:
4-154585795-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154585795T>A , CM000666.2:g.154585795T>A | GRCh38 |
| NC_000004.11:g.155506947T>A , CM000666.1:g.155506947T>A | GRCh37 |
| NC_000004.10:g.155726397T>A | NCBI36 |
| NG_008832.1:g.9951A>T , LRG_557:g.9951A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651975.2:c.1634A>T | ENSP00000498441.1:p.Glu545Val | |
| ENST00000403106.8:c.1634A>T MANE Select | ENSP00000385981.3:p.Glu545Val | |
| ENST00000651975.1:c.1634A>T | ENSP00000498441.1:p.Glu545Val | |
| ENST00000302053.7:c.1634A>T | ENSP00000306361.3:p.Glu545Val | |
| ENST00000403106.7:c.1634A>T | ENSP00000385981.3:p.Glu545Val | |
| ENST00000622532.1:c.644-85A>T | ENSP00000478487.1:n.644-85A>T | |
| NM_000508.3:c.1634A>T , LRG_557t1:c.1634A>T | NP_000499.1:p.Glu545Val | |
| NM_021871.2:c.1634A>T , LRG_557t2:c.1634A>T | NP_068657.1:p.Glu545Val | |
| NM_000508.4:c.1634A>T | NP_000499.1:p.Glu545Val | |
| NM_021871.3:c.1634A>T | NP_068657.1:p.Glu545Val | |
| NM_021871.4:c.1634A>T MANE Select | NP_068657.1:p.Glu545Val | |
| NM_000508.5:c.1634A>T | NP_000499.1:p.Glu545Val |