Linked Data
ClinVar Variation Id:
2898298
ClinVar RCV Id:
RCV003629649
gnomAD v4:
8-24956402-T-A
MyVariant Identifiers:
chr8:g.24813916T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956402T>A , CM000670.2:g.24956402T>A | GRCh38 |
| NC_000008.10:g.24813916T>A , CM000670.1:g.24813916T>A | GRCh37 |
| NC_000008.9:g.24869833T>A | NCBI36 |
| NG_008492.1:g.5216A>T , LRG_259:g.5216A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.2:c.114A>T MANE Select | ENSP00000482169.2:p.Ser38= | |
| ENST00000610854.1:c.114A>T | ENSP00000482169.1:p.Ser38= | |
| ENST00000615973.1:n.320A>T | ||
| ENST00000619417.1:c.114A>T | ENSP00000483690.1:p.Ser38= | |
| NM_006158.4:c.114A>T , LRG_259t1:c.114A>T | NP_006149.2:p.Ser38= | |
| NM_006158.5:c.114A>T MANE Select | NP_006149.2:p.Ser38= |