Linked Data
ClinVar Variation Id:
161777
ClinVar RCV Id:
RCV000149313
dbSNP Id:
rs193921086
gnomAD v2:
1-182908506-G-T
gnomAD v4:
1-182939371-G-T
COSMIC:
COSM1178226
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.182939371G>T , CM000663.2:g.182939371G>T | GRCh38 |
| NC_000001.10:g.182908506G>T , CM000663.1:g.182908506G>T | GRCh37 |
| NC_000001.9:g.181175129G>T | NCBI36 |
| NG_051596.1:g.19155C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367547.8:c.881C>A MANE Select | ENSP00000356518.3:p.Thr294Lys | |
| ENST00000367547.7:c.881C>A | ENSP00000356518.3:p.Thr294Lys | |
| ENST00000423786.2:c.1094C>A | ENSP00000397308.2:p.Thr365Lys | |
| ENST00000483655.5:n.824C>A | ||
| ENST00000488956.5:n.1341C>A | ||
| NM_030933.2:c.881C>A | NP_112195.2:p.Thr294Lys | |
| NM_001345928.1:c.524C>A | NP_001332857.1:p.Thr175Lys | |
| NM_030933.3:c.881C>A | NP_112195.2:p.Thr294Lys | |
| NM_030933.4:c.881C>A MANE Select | NP_112195.2:p.Thr294Lys | |
| NM_001345928.2:c.524C>A | NP_001332857.1:p.Thr175Lys |