Linked Data
ClinVar Variation Id:
347820
dbSNP Id:
rs368446857
ExAC:
4:155508724 C / T
gnomAD v2:
4-155508724-C-T
gnomAD v3:
4-154587572-C-T
gnomAD v4:
4-154587572-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154587572C>T , CM000666.2:g.154587572C>T | GRCh38 |
| NC_000004.11:g.155508724C>T , CM000666.1:g.155508724C>T | GRCh37 |
| NC_000004.10:g.155728174C>T | NCBI36 |
| NG_008832.1:g.8174G>A , LRG_557:g.8174G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651975.2:c.450G>A | ENSP00000498441.1:p.Gln150= | |
| ENST00000403106.8:c.450G>A MANE Select | ENSP00000385981.3:p.Gln150= | |
| ENST00000651975.1:c.450G>A | ENSP00000498441.1:p.Gln150= | |
| ENST00000302053.7:c.450G>A | ENSP00000306361.3:p.Gln150= | |
| ENST00000403106.7:c.450G>A | ENSP00000385981.3:p.Gln150= | |
| ENST00000622532.1:c.450G>A | ENSP00000478487.1:p.Gln150= | |
| NM_000508.3:c.450G>A , LRG_557t1:c.450G>A | NP_000499.1:p.Gln150= | |
| NM_021871.2:c.450G>A , LRG_557t2:c.450G>A | NP_068657.1:p.Gln150= | |
| NM_000508.4:c.450G>A | NP_000499.1:p.Gln150= | |
| NM_021871.3:c.450G>A | NP_068657.1:p.Gln150= | |
| NM_021871.4:c.450G>A MANE Select | NP_068657.1:p.Gln150= | |
| NM_000508.5:c.450G>A | NP_000499.1:p.Gln150= |