Linked Data
ClinVar Variation Id:
2570629
ClinVar RCV Id:
RCV003307389
dbSNP Id:
rs577408409
ExAC:
1:171605764 T / A
gnomAD v2:
1-171605764-T-A
gnomAD v3:
1-171636624-T-A
gnomAD v4:
1-171636624-T-A
ERepo:
CA1244148/MONDO:0007665/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636624T>A , CM000663.2:g.171636624T>A | GRCh38 |
| NC_000001.10:g.171605764T>A , CM000663.1:g.171605764T>A | GRCh37 |
| NC_000001.9:g.169872387T>A | NCBI36 |
| NG_008859.1:g.21010A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.816A>T (MYOC) MANE Select | ENSP00000037502.5:p.Arg272= | |
| ENST00000637303.1:c.235-2006T>A (MYOCOS) | ENSP00000490048.1:n.235-2006T>A | |
| ENST00000638471.1:c.*154A>T (MYOC) | ENSP00000491206.1:n.*154A>T | |
| ENST00000037502.10:c.816A>T (MYOC) | ENSP00000037502.5:p.Arg272= | |
| ENST00000614688.1:c.816A>T (MYOC) | ENSP00000478680.1:p.Arg272= | |
| NM_000261.1:c.816A>T (MYOC) | NP_000252.1:p.Arg272= | |
| NM_000261.2:c.816A>T (MYOC) MANE Select | NP_000252.1:p.Arg272= |