Linked Data
ClinVar Variation Id:
1342962
ClinVar RCV Id:
RCV001843412
dbSNP Id:
rs2102944665
COSMIC:
COSM376334
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636353C>T , CM000663.2:g.171636353C>T | GRCh38 |
| NC_000001.10:g.171605493C>T , CM000663.1:g.171605493C>T | GRCh37 |
| NC_000001.9:g.169872116C>T | NCBI36 |
| NG_008859.1:g.21281G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1087G>A (MYOC) MANE Select | ENSP00000037502.5:p.Ala363Thr | |
| ENST00000637303.1:c.235-2277C>T (MYOCOS) | ENSP00000490048.1:n.235-2277C>T | |
| ENST00000638471.1:c.*425G>A (MYOC) | ENSP00000491206.1:n.*425G>A | |
| ENST00000037502.10:c.1087G>A (MYOC) | ENSP00000037502.5:p.Ala363Thr | |
| ENST00000614688.1:c.*51G>A (MYOC) | ENSP00000478680.1:n.*51G>A | |
| NM_000261.1:c.1087G>A (MYOC) | NP_000252.1:p.Ala363Thr | |
| NM_000261.2:c.1087G>A (MYOC) MANE Select | NP_000252.1:p.Ala363Thr |