Linked Data
ClinVar Variation Id:
1121849
ClinVar RCV Id:
RCV001452272
dbSNP Id:
rs1823251633
gnomAD v4:
8-117807228-A-G
MyVariant Identifiers:
chr8:g.118819467A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117807228A>G , CM000670.2:g.117807228A>G | GRCh38 |
| NC_000008.10:g.118819467A>G , CM000670.1:g.118819467A>G | GRCh37 |
| NC_000008.9:g.118888648A>G | NCBI36 |
| NG_007455.2:g.309592T>C , LRG_493:g.309592T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.1339T>C | ||
| ENST00000378204.7:c.1872T>C MANE Select | ENSP00000367446.3:p.Ala624= | |
| ENST00000378204.6:c.1872T>C | ENSP00000367446.2:p.Ala624= | |
| ENST00000437196.1:c.*763T>C | ENSP00000407299.1:n.*763T>C | |
| NM_000127.2:c.1872T>C , LRG_493t1:c.1872T>C | NP_000118.2:p.Ala624= | |
| NM_000127.3:c.1872T>C MANE Select | NP_000118.2:p.Ala624= |