Linked Data
ClinVar Variation Id:
2442278
ClinVar RCV Id:
RCV003148607
dbSNP Id:
rs2234928
ERepo:
CA32685503/MONDO:0007665/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636123G>C , CM000663.2:g.171636123G>C | GRCh38 |
| NC_000001.10:g.171605263G>C , CM000663.1:g.171605263G>C | GRCh37 |
| NC_000001.9:g.169871886G>C | NCBI36 |
| NG_008859.1:g.21511C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1317C>G (MYOC) MANE Select | ENSP00000037502.5:p.Val439= | |
| ENST00000637303.1:c.235-2507G>C (MYOCOS) | ENSP00000490048.1:n.235-2507G>C | |
| ENST00000638471.1:c.*655C>G (MYOC) | ENSP00000491206.1:n.*655C>G | |
| ENST00000037502.10:c.1317C>G (MYOC) | ENSP00000037502.5:p.Val439= | |
| ENST00000614688.1:c.*281C>G (MYOC) | ENSP00000478680.1:n.*281C>G | |
| NM_000261.1:c.1317C>G (MYOC) | NP_000252.1:p.Val439= | |
| NM_000261.2:c.1317C>G (MYOC) MANE Select | NP_000252.1:p.Val439= |