Linked Data
ClinVar Variation Id:
362621
ClinVar RCV Id:
RCV000297649
dbSNP Id:
rs79034217
gnomAD v2:
8-24808979-C-T
gnomAD v3:
8-24951466-C-T
gnomAD v4:
8-24951466-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24951466C>T , CM000670.2:g.24951466C>T | GRCh38 |
| NC_000008.10:g.24808979C>T , CM000670.1:g.24808979C>T | GRCh37 |
| NC_000008.9:g.24864896C>T | NCBI36 |
| NG_008492.1:g.10152G>A , LRG_259:g.10152G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000610854.2:c.*1344G>A MANE Select | ENSP00000482169.2:n.*1344G>A | |
| ENST00000610854.1:c.*1344G>A | ENSP00000482169.1:n.*1344G>A | |
| NM_006158.4:c.*1344G>A , LRG_259t1:c.*1344G>A | NP_006149.2:n.*1344G>A | |
| NM_006158.5:c.*1344G>A MANE Select | NP_006149.2:n.*1344G>A |