Linked Data
ClinVar Variation Id:
2849462
ClinVar RCV Id:
RCV003621279
dbSNP Id:
rs1254736539
gnomAD v4:
9-133352044-G-A
MyVariant Identifiers:
chr9:g.133352044G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352044G>A , CM000671.2:g.133352044G>A | GRCh38 |
| NC_000009.10:g.135208720G>A | NCBI36 |
| NG_008477.1:g.9463C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.833+17C>T MANE Select | ENSP00000361042.3:n.833+17C>T | |
| ENST00000371974.7:c.833+17C>T | ENSP00000361042.3:n.833+17C>T | |
| ENST00000437995.1:n.743+17C>T | ||
| ENST00000495952.5:n.823+17C>T | ||
| ENST00000615505.4:c.506+17C>T | ENSP00000482067.1:n.506+17C>T | |
| NM_001280787.1:c.506+17C>T | NP_001267716.1:n.506+17C>T | |
| NM_003172.3:c.833+17C>T | NP_003163.1:n.833+17C>T | |
| XM_011518942.1:c.506+17C>T | XP_011517244.1:n.506+17C>T | |
| NM_003172.4:c.833+17C>T MANE Select | NP_003163.1:n.833+17C>T |