Linked Data
ClinVar Variation Id:
365227
ClinVar RCV Id:
RCV000290305
dbSNP Id:
rs886063522
gnomAD v4:
9-129813756-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813756G>A , CM000671.2:g.129813756G>A | GRCh38 |
| NC_000009.11:g.132576035G>A , CM000671.1:g.132576035G>A | GRCh37 |
| NC_000009.10:g.131615856G>A | NCBI36 |
| NG_008049.1:g.15407C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.*216C>T MANE Select | ENSP00000345719.4:n.*216C>T | |
| ENST00000651202.1:c.*483C>T | ENSP00000498222.1:n.*483C>T | |
| ENST00000351698.4:c.*216C>T | ENSP00000345719.4:n.*216C>T | |
| ENST00000474192.1:n.799C>T | ||
| NM_000113.2:c.*216C>T | NP_000104.1:n.*216C>T | |
| XR_929731.3:n.1410C>T | ||
| NM_000113.3:c.*216C>T MANE Select | NP_000104.1:n.*216C>T |