Linked Data
ClinVar Variation Id:
365219
ClinVar RCV Id:
RCV000301136
dbSNP Id:
rs886063520
gnomAD v3:
9-129813349-G-A
gnomAD v4:
9-129813349-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813349G>A , CM000671.2:g.129813349G>A | GRCh38 |
| NC_000009.11:g.132575628G>A , CM000671.1:g.132575628G>A | GRCh37 |
| NC_000009.10:g.131615449G>A | NCBI36 |
| NG_008049.1:g.15814C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.*623C>T MANE Select | ENSP00000345719.4:n.*623C>T | |
| ENST00000651202.1:c.*890C>T | ENSP00000498222.1:n.*890C>T | |
| ENST00000351698.4:c.*623C>T | ENSP00000345719.4:n.*623C>T | |
| NM_000113.2:c.*623C>T | NP_000104.1:n.*623C>T | |
| XR_929731.3:n.1817C>T | ||
| NM_000113.3:c.*623C>T MANE Select | NP_000104.1:n.*623C>T |