Linked Data
ClinVar Variation Id:
1480090
ClinVar RCV Id:
RCV001991184
dbSNP Id:
rs1318116962
MyVariant Identifiers:
chr9:g.133352484A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352484A>G , CM000671.2:g.133352484A>G | GRCh38 |
| NC_000009.10:g.135209160A>G | NCBI36 |
| NG_008477.1:g.9023T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.713T>C MANE Select | ENSP00000361042.3:p.Ile238Thr | |
| ENST00000371974.7:c.713T>C | ENSP00000361042.3:p.Ile238Thr | |
| ENST00000437995.1:n.623T>C | ||
| ENST00000495952.5:n.703T>C | ||
| ENST00000615505.4:c.386T>C | ENSP00000482067.1:p.Ile129Thr | |
| NM_001280787.1:c.386T>C | NP_001267716.1:p.Ile129Thr | |
| NM_003172.3:c.713T>C | NP_003163.1:p.Ile238Thr | |
| XM_011518942.1:c.386T>C | XP_011517244.1:p.Ile129Thr | |
| NM_003172.4:c.713T>C MANE Select | NP_003163.1:p.Ile238Thr |