Linked Data
ClinVar Variation Id:
370346
ClinVar RCV Id:
RCV000409335
dbSNP Id:
rs747196387
ExAC:
3:165547927 C / A
gnomAD v2:
3-165547927-C-A
gnomAD v3:
3-165830139-C-A
gnomAD v4:
3-165830139-C-A
PubMed:
PMID:8554068
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165830139C>A , CM000665.2:g.165830139C>A | GRCh38 |
| NC_000003.11:g.165547927C>A , CM000665.1:g.165547927C>A | GRCh37 |
| NC_000003.10:g.167030621C>A | NCBI36 |
| NG_009031.1:g.12327G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.895G>T MANE Select | ENSP00000264381.3:p.Glu299Ter | |
| ENST00000264381.7:c.895G>T | ENSP00000264381.3:p.Glu299Ter | |
| ENST00000479451.5:c.107+7175G>T | ENSP00000418325.1:n.107+7175G>T | |
| ENST00000482958.1:c.895G>T | ENSP00000419804.1:p.Glu299Ter | |
| ENST00000488954.1:c.107+7175G>T | ENSP00000418504.1:n.107+7175G>T | |
| ENST00000497011.5:c.895G>T | ENSP00000419505.1:p.Glu299Ter | |
| NM_000055.2:c.895G>T | NP_000046.1:p.Glu299Ter | |
| XM_005247685.1:c.1018G>T | XP_005247742.1:p.Glu340Ter | |
| NM_000055.3:c.895G>T | NP_000046.1:p.Glu299Ter | |
| NR_137635.1:n.159+7175G>T | ||
| NR_137636.1:n.1062G>T | ||
| NM_000055.4:c.895G>T MANE Select | NP_000046.1:p.Glu299Ter | |
| NR_137635.2:n.110+7175G>T | ||
| NR_137636.2:n.1013G>T |