Linked Data
ClinVar Variation Id:
16418
ClinVar RCV Id:
RCV000017880
dbSNP Id:
rs121909615
PubMed:
PMID:14615374
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154586390G>A , CM000666.2:g.154586390G>A | GRCh38 |
| NC_000004.11:g.155507542G>A , CM000666.1:g.155507542G>A | GRCh37 |
| NC_000004.10:g.155726992G>A | NCBI36 |
| NG_008832.1:g.9356C>T , LRG_557:g.9356C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651975.2:c.1039C>T | ENSP00000498441.1:p.Gln347Ter | |
| ENST00000403106.8:c.1039C>T MANE Select | ENSP00000385981.3:p.Gln347Ter | |
| ENST00000651975.1:c.1039C>T | ENSP00000498441.1:p.Gln347Ter | |
| ENST00000302053.7:c.1039C>T | ENSP00000306361.3:p.Gln347Ter | |
| ENST00000403106.7:c.1039C>T | ENSP00000385981.3:p.Gln347Ter | |
| ENST00000622532.1:c.643+396C>T | ENSP00000478487.1:n.643+396C>T | |
| NM_000508.3:c.1039C>T , LRG_557t1:c.1039C>T | NP_000499.1:p.Gln347Ter | |
| NM_021871.2:c.1039C>T , LRG_557t2:c.1039C>T | NP_068657.1:p.Gln347Ter | |
| NM_000508.4:c.1039C>T | NP_000499.1:p.Gln347Ter | |
| NM_021871.3:c.1039C>T | NP_068657.1:p.Gln347Ter | |
| NM_021871.4:c.1039C>T MANE Select | NP_068657.1:p.Gln347Ter | |
| NM_000508.5:c.1039C>T | NP_000499.1:p.Gln347Ter |