Linked Data
ClinVar Variation Id:
5122
ClinVar RCV Id:
RCV000005429
dbSNP Id:
rs104894324
gnomAD v2:
12-8759547-G-A
gnomAD v4:
12-8606951-G-A
COSMIC:
COSM4660629
PubMed:
PMID:11007475
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8606951G>A , CM000674.2:g.8606951G>A | GRCh38 |
| NC_000012.11:g.8759547G>A , CM000674.1:g.8759547G>A | GRCh37 |
| NC_000012.10:g.8650814G>A | NCBI36 |
| NG_011588.1:g.10896C>T , LRG_17:g.10896C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000537228.6:c.70C>T | ENSP00000445691.1:p.Arg24Trp | |
| ENST00000543081.6:c.70C>T | ENSP00000439103.2:p.Arg24Trp | |
| ENST00000544516.6:c.70C>T | ENSP00000439538.2:p.Arg24Trp | |
| ENST00000545576.2:n.179C>T | ||
| ENST00000696246.1:c.55C>T | ENSP00000512504.1:p.Arg19Trp | |
| ENST00000696271.1:n.190C>T | ||
| ENST00000696272.1:c.55C>T | ENSP00000512515.1:p.Arg19Trp | |
| ENST00000696273.1:c.103C>T | ENSP00000512516.1:p.Arg35Trp | |
| ENST00000229335.11:c.70C>T MANE Select | ENSP00000229335.6:p.Arg24Trp | |
| ENST00000229335.10:c.70C>T | ENSP00000229335.6:p.Arg24Trp | |
| ENST00000537228.5:c.70C>T | ENSP00000445691.1:p.Arg24Trp | |
| ENST00000543081.5:c.66C>T | ||
| ENST00000544516.5:c.66C>T | ||
| ENST00000545512.1:c.66C>T | ||
| ENST00000545576.1:n.104C>T | ||
| NM_020661.2:c.70C>T , LRG_17t1:c.70C>T | NP_065712.1:p.Arg24Trp | |
| XM_011520772.1:c.70C>T | XP_011519074.1:p.Arg24Trp | |
| XM_011520773.1:c.70C>T | XP_011519075.1:p.Arg24Trp | |
| NM_001330343.1:c.70C>T | NP_001317272.1:p.Arg24Trp | |
| NM_020661.3:c.70C>T | NP_065712.1:p.Arg24Trp | |
| XM_011520773.2:c.70C>T | XP_011519075.1:p.Arg24Trp | |
| NM_020661.4:c.70C>T MANE Select | NP_065712.1:p.Arg24Trp | |
| NM_001330343.2:c.70C>T | NP_001317272.1:p.Arg24Trp |