Linked Data
ClinVar Variation Id:
365218
ClinVar RCV Id:
RCV000406273
dbSNP Id:
rs147959623
gnomAD v2:
9-132575466-C-T
gnomAD v3:
9-129813187-C-T
gnomAD v4:
9-129813187-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813187C>T , CM000671.2:g.129813187C>T | GRCh38 |
| NC_000009.11:g.132575466C>T , CM000671.1:g.132575466C>T | GRCh37 |
| NC_000009.10:g.131615287C>T | NCBI36 |
| NG_008049.1:g.15976G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.*785G>A MANE Select | ENSP00000345719.4:n.*785G>A | |
| ENST00000651202.1:c.*1052G>A | ENSP00000498222.1:n.*1052G>A | |
| ENST00000351698.4:c.*785G>A | ENSP00000345719.4:n.*785G>A | |
| NM_000113.2:c.*785G>A | NP_000104.1:n.*785G>A | |
| XR_929731.3:n.1979G>A | ||
| NM_000113.3:c.*785G>A MANE Select | NP_000104.1:n.*785G>A |