Linked Data
ClinVar Variation Id:
2867169
ClinVar RCV Id:
RCV003619208
gnomAD v4:
9-133356399-C-T
MyVariant Identifiers:
chr9:g.133356399C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133356399C>T , CM000671.2:g.133356399C>T | GRCh38 |
| NC_000009.10:g.135213096C>T | NCBI36 |
| NG_008477.1:g.5087G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.54+1G>A MANE Select | ENSP00000361042.3:n.54+1G>A | |
| ENST00000371974.7:c.54+1G>A | ENSP00000361042.3:n.54+1G>A | |
| ENST00000463965.1:n.277+1G>A | ||
| ENST00000615505.4:c.-222+1G>A | ENSP00000482067.1:n.-222+1G>A | |
| NM_001280787.1:c.-222+1G>A | NP_001267716.1:n.-222+1G>A | |
| NM_003172.3:c.54+1G>A | NP_003163.1:n.54+1G>A | |
| NM_003172.4:c.54+1G>A MANE Select | NP_003163.1:n.54+1G>A |