Linked Data
ClinVar Variation Id:
1674432
ClinVar RCV Id:
RCV002204367
dbSNP Id:
rs2131618977
gnomAD v4:
8-86671017-A-T
MyVariant Identifiers:
chr8:g.87683245A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86671017A>T , CM000670.2:g.86671017A>T | GRCh38 |
| NC_000008.10:g.87683245A>T , CM000670.1:g.87683245A>T | GRCh37 |
| NC_000008.9:g.87752361A>T | NCBI36 |
| NG_016980.1:g.77659T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.420T>A MANE Select | ENSP00000316605.5:p.Arg140= | |
| ENST00000680314.1:n.181T>A | ||
| ENST00000681746.1:c.420T>A | ENSP00000505959.1:p.Arg140= | |
| ENST00000320005.5:c.420T>A | ENSP00000316605.5:p.Arg140= | |
| NM_019098.4:c.420T>A | NP_061971.3:p.Arg140= | |
| XM_011517138.1:c.6T>A | XP_011515440.1:p.Arg2= | |
| XM_011517138.2:c.6T>A | XP_011515440.1:p.Arg2= | |
| NM_019098.5:c.420T>A MANE Select | NP_061971.3:p.Arg140= |