Linked Data
ClinVar Variation Id:
338372
ClinVar RCV Id:
RCV000292875
dbSNP Id:
rs56049320
gnomAD v2:
20-39314511-A-T
gnomAD v3:
20-40685871-A-T
gnomAD v4:
20-40685871-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.40685871A>T , CM000682.2:g.40685871A>T | GRCh38 |
| NC_000020.10:g.39314511A>T , CM000682.1:g.39314511A>T | GRCh37 |
| NC_000020.9:g.38747925A>T | NCBI36 |
| NG_023378.1:g.8366T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373313.3:c.*2008T>A MANE Select | ENSP00000362410.2:n.*2008T>A | |
| ENST00000373313.2:c.*2008T>A | ENSP00000362410.2:n.*2008T>A | |
| NM_005461.4:c.*2008T>A | NP_005452.2:n.*2008T>A | |
| NM_005461.5:c.*2008T>A MANE Select | NP_005452.2:n.*2008T>A |