Linked Data
ClinVar Variation Id:
2121353
ClinVar RCV Id:
RCV003027969
gnomAD v4:
14-76083241-C-T
MyVariant Identifiers:
chr14:g.76549584C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.76083241C>T , CM000676.2:g.76083241C>T | GRCh38 |
| NC_000014.8:g.76549584C>T , CM000676.1:g.76549584C>T | GRCh37 |
| NC_000014.7:g.75619337C>T | NCBI36 |
| NG_031957.1:g.102489C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314067.11:c.459C>T MANE Select | ENSP00000324177.6:p.Asp153= | |
| ENST00000679083.1:c.396C>T | ENSP00000504736.1:p.Asp132= | |
| ENST00000238628.10:c.474C>T | ENSP00000238628.6:p.Asp158= | |
| ENST00000314067.10:c.459C>T | ENSP00000324177.6:p.Asp153= | |
| ENST00000542766.5:c.459C>T | ENSP00000440064.1:p.Asp153= | |
| ENST00000554026.5:n.810C>T | ||
| ENST00000555305.5:n.715C>T | ||
| NM_001102564.1:c.459C>T | NP_001096034.1:p.Asp153= | |
| NM_052873.2:c.474C>T | NP_443105.2:p.Asp158= | |
| NR_045664.1:n.413C>T | ||
| NR_045665.1:n.493C>T | ||
| NM_001102564.2:c.459C>T | NP_001096034.1:p.Asp153= | |
| NM_052873.3:c.474C>T | NP_443105.2:p.Asp158= | |
| NM_001102564.3:c.459C>T MANE Select | NP_001096034.1:p.Asp153= | |
| NR_045664.2:n.403C>T | ||
| NR_045665.2:n.483C>T |