Linked Data
ClinVar Variation Id:
1574648
ClinVar RCV Id:
RCV002073667
dbSNP Id:
rs774138147
gnomAD v2:
8-24811099-A-G
gnomAD v3:
8-24953585-A-G
gnomAD v4:
8-24953585-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24953585A>G , CM000670.2:g.24953585A>G | GRCh38 |
| NC_000008.10:g.24811099A>G , CM000670.1:g.24811099A>G | GRCh37 |
| NC_000008.9:g.24867016A>G | NCBI36 |
| NG_008492.1:g.8033T>C , LRG_259:g.8033T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.2:c.1380T>C MANE Select | ENSP00000482169.2:p.Ala460= | |
| ENST00000610854.1:c.1380T>C | ENSP00000482169.1:p.Ala460= | |
| ENST00000619417.1:c.*245T>C | ENSP00000483690.1:n.*245T>C | |
| NM_006158.4:c.1380T>C , LRG_259t1:c.1380T>C | NP_006149.2:p.Ala460= | |
| NM_006158.5:c.1380T>C MANE Select | NP_006149.2:p.Ala460= |