Linked Data
ClinVar Variation Id:
16312
ClinVar RCV Id:
RCV000017705
dbSNP Id:
rs72549330
gnomAD v2:
1-171083259-G-T
gnomAD v4:
1-171114119-G-T
PubMed:
PMID:10479479
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171114119G>T , CM000663.2:g.171114119G>T | GRCh38 |
| NC_000001.10:g.171083259G>T , CM000663.1:g.171083259G>T | GRCh37 |
| NC_000001.9:g.169349883G>T | NCBI36 |
| NG_012690.1:g.28242G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367755.9:c.940G>T MANE Select | ENSP00000356729.4:p.Glu314Ter | |
| ENST00000367755.8:c.940G>T | ENSP00000356729.4:p.Glu314Ter | |
| NM_001002294.2:c.940G>T | NP_001002294.1:p.Glu314Ter | |
| NM_006894.5:c.940G>T | NP_008825.4:p.Glu314Ter | |
| XM_005245044.1:c.751G>T | XP_005245101.1:p.Glu251Ter | |
| XM_011509345.1:c.880G>T | XP_011507647.1:p.Glu294Ter | |
| XM_011509346.1:c.880G>T | XP_011507648.1:p.Glu294Ter | |
| NM_001319173.1:c.880G>T | NP_001306102.1:p.Glu294Ter | |
| NM_001319174.1:c.751G>T | NP_001306103.1:p.Glu251Ter | |
| XM_011509345.3:c.880G>T | XP_011507647.1:p.Glu294Ter | |
| XM_024454365.1:c.193G>T | XP_024310133.1:p.Glu65Ter | |
| NM_001002294.3:c.940G>T MANE Select | NP_001002294.1:p.Glu314Ter | |
| NM_001319173.2:c.880G>T | NP_001306102.1:p.Glu294Ter | |
| NM_001319174.2:c.751G>T | NP_001306103.1:p.Glu251Ter | |
| NM_006894.6:c.940G>T | NP_008825.4:p.Glu314Ter |