Linked Data
ClinVar Variation Id:
1411378
ClinVar RCV Id:
RCV001918818
dbSNP Id:
rs1424618809
gnomAD v2:
8-24813975-C-T
gnomAD v4:
8-24956461-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956461C>T , CM000670.2:g.24956461C>T | GRCh38 |
| NC_000008.10:g.24813975C>T , CM000670.1:g.24813975C>T | GRCh37 |
| NC_000008.9:g.24869892C>T | NCBI36 |
| NG_008492.1:g.5157G>A , LRG_259:g.5157G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000610854.2:c.55G>A MANE Select | ENSP00000482169.2:p.Val19Met | |
| ENST00000610854.1:c.55G>A | ENSP00000482169.1:p.Val19Met | |
| ENST00000615973.1:n.261G>A | ||
| ENST00000619417.1:c.55G>A | ENSP00000483690.1:p.Val19Met | |
| NM_006158.4:c.55G>A , LRG_259t1:c.55G>A | NP_006149.2:p.Val19Met | |
| NM_006158.5:c.55G>A MANE Select | NP_006149.2:p.Val19Met |