Linked Data
ClinVar Variation Id:
223089
ClinVar RCV Id:
RCV000236892
dbSNP Id:
rs868953318
gnomAD v4:
3-53233271-C-T
PubMed:
PMID:27259054
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53233271C>T , CM000665.2:g.53233271C>T | GRCh38 |
| NC_000003.11:g.53267287C>T , CM000665.1:g.53267287C>T | GRCh37 |
| NC_000003.10:g.53242327C>T | NCBI36 |
| NG_027815.1:g.27844G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462138.6:c.633G>A MANE Select | ENSP00000417773.1:p.Trp211Ter | |
| ENST00000296289.10:c.135G>A | ENSP00000296289.7:p.Trp45Ter | |
| ENST00000423516.5:c.657G>A | ENSP00000391481.1:p.Trp219Ter | |
| ENST00000423525.6:c.633G>A | ENSP00000405455.2:p.Trp211Ter | |
| ENST00000450814.6:c.*61G>A | ENSP00000413503.2:n.*61G>A | |
| ENST00000460343.5:n.2337G>A | ||
| ENST00000462138.5:c.633G>A | ENSP00000417773.1:p.Trp211Ter | |
| ENST00000466765.1:n.182G>A | ||
| ENST00000469678.1:c.633G>A | ENSP00000418340.1:p.Trp211Ter | |
| ENST00000472528.5:c.*552G>A | ENSP00000417312.1:n.*552G>A | |
| ENST00000494523.2:n.1749G>A | ||
| NM_001064.3:c.633G>A | NP_001055.1:p.Trp211Ter | |
| NM_001135055.2:c.633G>A | NP_001128527.1:p.Trp211Ter | |
| NM_001258028.1:c.657G>A | NP_001244957.1:p.Trp219Ter | |
| NR_047580.1:n.695G>A | ||
| XM_011534054.1:c.657G>A | XP_011532356.1:p.Trp219Ter | |
| XM_011534055.1:c.135G>A | XP_011532357.1:p.Trp45Ter | |
| XM_011534055.2:c.135G>A | XP_011532357.1:p.Trp45Ter | |
| NM_001064.4:c.633G>A MANE Select | NP_001055.1:p.Trp211Ter | |
| NM_001135055.3:c.633G>A | NP_001128527.1:p.Trp211Ter | |
| NM_001258028.2:c.657G>A | NP_001244957.1:p.Trp219Ter | |
| NR_047580.2:n.603G>A |