Linked Data
ClinVar Variation Id:
225481
ClinVar RCV Id:
RCV000490389
dbSNP Id:
rs200386310
ExAC:
14:65239396 C / A
gnomAD v2:
14-65239396-C-A
gnomAD v3:
14-64772678-C-A
gnomAD v4:
14-64772678-C-A
PubMed:
PMID:11703334
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64772678C>A , CM000676.2:g.64772678C>A | GRCh38 |
| NC_000014.8:g.65239396C>A , CM000676.1:g.65239396C>A | GRCh37 |
| NC_000014.7:g.64309149C>A | NCBI36 |
| NG_016202.1:g.55471G>T | |
| NG_016202.2:g.112215G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389720.4:c.5455G>T | ENSP00000374370.4:p.Glu1819Ter | |
| ENST00000644917.1:c.5455G>T MANE Select | ENSP00000495909.1:p.Glu1819Ter | |
| ENST00000389720.3:c.5455G>T | ENSP00000374370.3:p.Glu1819Ter | |
| ENST00000389721.9:c.5455G>T | ENSP00000374371.5:p.Glu1819Ter | |
| ENST00000389722.7:c.5455G>T | ENSP00000374372.3:p.Glu1819Ter | |
| ENST00000553938.5:c.1450G>T | ENSP00000451324.1:p.Glu484Ter | |
| ENST00000556626.5:c.5455G>T | ENSP00000451752.1:p.Glu1819Ter | |
| NM_000347.5:c.5455G>T | NP_000338.3:p.Glu1819Ter | |
| NM_001024858.2:c.5455G>T | NP_001020029.1:p.Glu1819Ter | |
| XM_005268023.3:c.5455G>T | XP_005268080.1:p.Glu1819Ter | |
| NM_001024858.3:c.5455G>T | NP_001020029.1:p.Glu1819Ter | |
| NM_001355436.2:c.5455G>T MANE Select | NP_001342365.1:p.Glu1819Ter | |
| NM_001355437.2:c.5455G>T | NP_001342366.1:p.Glu1819Ter | |
| XM_017021612.2:c.5455G>T | XP_016877101.1:p.Glu1819Ter | |
| XM_024449699.1:c.5455G>T | XP_024305467.1:p.Glu1819Ter | |
| NM_001024858.4:c.5455G>T | NP_001020029.1:p.Glu1819Ter |