Linked Data
ClinVar Variation Id:
7956
dbSNP Id:
rs74315338
ERepo:
CA119181/MONDO:0020367/019
PubMed:
PMID:10819638
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636143A>G , CM000663.2:g.171636143A>G | GRCh38 |
| NC_000001.10:g.171605283A>G , CM000663.1:g.171605283A>G | GRCh37 |
| NC_000001.9:g.169871906A>G | NCBI36 |
| NG_008859.1:g.21491T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000037502.11:c.1297T>C (MYOC) MANE Select | ENSP00000037502.5:p.Cys433Arg | |
| ENST00000637303.1:c.235-2487A>G (MYOCOS) | ENSP00000490048.1:n.235-2487A>G | |
| ENST00000638471.1:c.*635T>C (MYOC) | ENSP00000491206.1:n.*635T>C | |
| ENST00000037502.10:c.1297T>C (MYOC) | ENSP00000037502.5:p.Cys433Arg | |
| ENST00000614688.1:c.*261T>C (MYOC) | ENSP00000478680.1:n.*261T>C | |
| NM_000261.1:c.1297T>C (MYOC) | NP_000252.1:p.Cys433Arg | |
| NM_000261.2:c.1297T>C (MYOC) MANE Select | NP_000252.1:p.Cys433Arg |