Linked Data
ClinVar Variation Id:
4516
ClinVar RCV Id:
RCV000004774
dbSNP Id:
rs104893880
ExAC:
4:6293688 C / T
gnomAD v2:
4-6293688-C-T
gnomAD v4:
4-6291961-C-T
PubMed:
PMID:9817917
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6291961C>T , CM000666.2:g.6291961C>T | GRCh38 |
| NC_000004.11:g.6293688C>T , CM000666.1:g.6293688C>T | GRCh37 |
| NC_000004.10:g.6344589C>T | NCBI36 |
| NG_011700.1:g.27112C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.676C>T | ENSP00000507852.1:p.Gln226Ter | |
| ENST00000683395.1:c.653C>T | ||
| ENST00000684087.1:c.676C>T | ENSP00000506978.1:p.Gln226Ter | |
| ENST00000506362.2:c.427C>T | ENSP00000424103.2:p.Gln143Ter | |
| ENST00000673642.1:c.475C>T | ENSP00000501242.1:p.Gln159Ter | |
| ENST00000673991.1:c.676C>T | ENSP00000501033.1:p.Gln226Ter | |
| ENST00000226760.5:c.676C>T MANE Select | ENSP00000226760.1:p.Gln226Ter | |
| ENST00000503569.5:c.676C>T | ENSP00000423337.1:p.Gln226Ter | |
| ENST00000506362.1:c.273C>T | ||
| ENST00000507765.1:n.861C>T | ||
| NM_001145853.1:c.676C>T | NP_001139325.1:p.Gln226Ter | |
| NM_006005.3:c.676C>T MANE Select | NP_005996.2:p.Gln226Ter | |
| XM_017008586.1:c.685C>T | XP_016864075.1:p.Gln229Ter |