Linked Data
ClinVar Variation Id:
365212
ClinVar RCV Id:
RCV000392321
dbSNP Id:
rs79201718
gnomAD v2:
9-132575290-A-T
gnomAD v3:
9-129813011-A-T
gnomAD v4:
9-129813011-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813011A>T , CM000671.2:g.129813011A>T | GRCh38 |
| NC_000009.11:g.132575290A>T , CM000671.1:g.132575290A>T | GRCh37 |
| NC_000009.10:g.131615111A>T | NCBI36 |
| NG_008049.1:g.16152T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.*961T>A MANE Select | ENSP00000345719.4:n.*961T>A | |
| ENST00000651202.1:c.*1228T>A | ENSP00000498222.1:n.*1228T>A | |
| ENST00000351698.4:c.*961T>A | ENSP00000345719.4:n.*961T>A | |
| NM_000113.2:c.*961T>A | NP_000104.1:n.*961T>A | |
| XR_929731.3:n.2155T>A | ||
| NM_000113.3:c.*961T>A MANE Select | NP_000104.1:n.*961T>A |