Linked Data
ClinVar Variation Id:
362642
ClinVar RCV Id:
RCV000351230
dbSNP Id:
rs886062834
gnomAD v2:
8-24810152-G-C
gnomAD v3:
8-24952639-G-C
gnomAD v4:
8-24952639-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24952639G>C , CM000670.2:g.24952639G>C | GRCh38 |
| NC_000008.10:g.24810152G>C , CM000670.1:g.24810152G>C | GRCh37 |
| NC_000008.9:g.24866069G>C | NCBI36 |
| NG_008492.1:g.8979C>G , LRG_259:g.8979C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000610854.2:c.*171C>G MANE Select | ENSP00000482169.2:n.*171C>G | |
| ENST00000610854.1:c.*171C>G | ENSP00000482169.1:n.*171C>G | |
| ENST00000619417.1:c.*668C>G | ENSP00000483690.1:n.*668C>G | |
| NM_006158.4:c.*171C>G , LRG_259t1:c.*171C>G | NP_006149.2:n.*171C>G | |
| NM_006158.5:c.*171C>G MANE Select | NP_006149.2:n.*171C>G |