Linked Data
ClinVar Variation Id:
495
ClinVar RCV Id:
RCV000000524
dbSNP Id:
rs104893867
PubMed:
PMID:11153907
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.17504404C>T , CM000666.2:g.17504404C>T | GRCh38 |
| NC_000004.11:g.17506027C>T , CM000666.1:g.17506027C>T | GRCh37 |
| NC_000004.10:g.17115125C>T | NCBI36 |
| NG_008763.1:g.12831G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706645.1:n.1317G>A | ||
| ENST00000281243.10:c.270G>A MANE Select | ENSP00000281243.5:p.Trp90Ter | |
| ENST00000281243.9:c.270G>A | ENSP00000281243.5:p.Trp90Ter | |
| ENST00000428702.6:c.177G>A | ENSP00000390944.2:p.Trp59Ter | |
| ENST00000505710.1:c.197G>A | ||
| ENST00000507439.5:c.270G>A | ENSP00000423227.1:p.Trp90Ter | |
| ENST00000508623.5:c.270G>A | ENSP00000426377.1:p.Trp90Ter | |
| ENST00000513615.5:c.270G>A | ENSP00000422759.1:p.Trp90Ter | |
| ENST00000514300.1:c.*201G>A | ENSP00000426039.1:n.*201G>A | |
| NM_000320.2:c.270G>A | NP_000311.2:p.Trp90Ter | |
| NM_001306140.1:c.177G>A | NP_001293069.1:p.Trp59Ter | |
| XR_241677.1:n.433G>A | ||
| NR_156494.1:n.450G>A | ||
| NM_000320.3:c.270G>A MANE Select | NP_000311.2:p.Trp90Ter | |
| NM_001306140.2:c.177G>A | NP_001293069.1:p.Trp59Ter | |
| NR_156494.2:n.306G>A |