Linked Data
ClinVar Variation Id:
912676
ClinVar RCV Id:
RCV001166016
dbSNP Id:
rs1275657167
gnomAD v3:
9-129813771-C-T
gnomAD v4:
9-129813771-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813771C>T , CM000671.2:g.129813771C>T | GRCh38 |
| NC_000009.11:g.132576050C>T , CM000671.1:g.132576050C>T | GRCh37 |
| NC_000009.10:g.131615871C>T | NCBI36 |
| NG_008049.1:g.15392G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.*201G>A MANE Select | ENSP00000345719.4:n.*201G>A | |
| ENST00000651202.1:c.*468G>A | ENSP00000498222.1:n.*468G>A | |
| ENST00000351698.4:c.*201G>A | ENSP00000345719.4:n.*201G>A | |
| ENST00000474192.1:n.784G>A | ||
| NM_000113.2:c.*201G>A | NP_000104.1:n.*201G>A | |
| XR_929731.3:n.1395G>A | ||
| NM_000113.3:c.*201G>A MANE Select | NP_000104.1:n.*201G>A |