Linked Data
ClinVar Variation Id:
1168919
dbSNP Id:
rs145977437
ExAC:
1:171605081 T / C
gnomAD v2:
1-171605081-T-C
gnomAD v3:
1-171635941-T-C
gnomAD v4:
1-171635941-T-C
ERepo:
CA1244011/MONDO:0007665/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171635941T>C , CM000663.2:g.171635941T>C | GRCh38 |
| NC_000001.10:g.171605081T>C , CM000663.1:g.171605081T>C | GRCh37 |
| NC_000001.9:g.169871704T>C | NCBI36 |
| NG_008859.1:g.21693A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1499A>G (MYOC) MANE Select | ENSP00000037502.5:p.Lys500Arg | |
| ENST00000637303.1:c.235-2689T>C (MYOCOS) | ENSP00000490048.1:n.235-2689T>C | |
| ENST00000638471.1:c.*837A>G (MYOC) | ENSP00000491206.1:n.*837A>G | |
| ENST00000037502.10:c.1499A>G (MYOC) | ENSP00000037502.5:p.Lys500Arg | |
| ENST00000614688.1:c.*463A>G (MYOC) | ENSP00000478680.1:n.*463A>G | |
| NM_000261.1:c.1499A>G (MYOC) | NP_000252.1:p.Lys500Arg | |
| NM_000261.2:c.1499A>G (MYOC) MANE Select | NP_000252.1:p.Lys500Arg |