Linked Data
ClinVar Variation Id:
1577716
ClinVar RCV Id:
RCV002081113
dbSNP Id:
rs1399819839
gnomAD v4:
9-133356297-C-T
MyVariant Identifiers:
chr9:g.133356297C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133356297C>T , CM000671.2:g.133356297C>T | GRCh38 |
| NC_000009.10:g.135212973C>T | NCBI36 |
| NG_008477.1:g.5210G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.78G>A MANE Select | ENSP00000361042.3:p.Arg26= | |
| ENST00000371974.7:c.78G>A | ENSP00000361042.3:p.Arg26= | |
| ENST00000437995.1:n.24G>A | ||
| ENST00000463965.1:n.301G>A | ||
| ENST00000615505.4:c.-222+103G>A | ENSP00000482067.1:n.-222+103G>A | |
| NM_001280787.1:c.-222+103G>A | NP_001267716.1:n.-222+103G>A | |
| NM_003172.3:c.78G>A | NP_003163.1:p.Arg26= | |
| XM_011518942.1:c.-386G>A | XP_011517244.1:n.-386G>A | |
| NM_003172.4:c.78G>A MANE Select | NP_003163.1:p.Arg26= |