Linked Data
ClinVar Variation Id:
1720675
ClinVar RCV Id:
RCV002298387
MyVariant Identifiers:
chr9:g.133352470G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352470G>T , CM000671.2:g.133352470G>T | GRCh38 |
| NC_000009.10:g.135209146G>T | NCBI36 |
| NG_008477.1:g.9037C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.727C>A MANE Select | ENSP00000361042.3:p.Pro243Thr | |
| ENST00000371974.7:c.727C>A | ENSP00000361042.3:p.Pro243Thr | |
| ENST00000437995.1:n.637C>A | ||
| ENST00000495952.5:n.717C>A | ||
| ENST00000615505.4:c.400C>A | ENSP00000482067.1:p.Pro134Thr | |
| NM_001280787.1:c.400C>A | NP_001267716.1:p.Pro134Thr | |
| NM_003172.3:c.727C>A | NP_003163.1:p.Pro243Thr | |
| XM_011518942.1:c.400C>A | XP_011517244.1:p.Pro134Thr | |
| NM_003172.4:c.727C>A MANE Select | NP_003163.1:p.Pro243Thr |