Linked Data
ClinVar Variation Id:
1684936
dbSNP Id:
rs200072086
ExAC:
1:171605813 G / A
gnomAD v2:
1-171605813-G-A
gnomAD v3:
1-171636673-G-A
gnomAD v4:
1-171636673-G-A
ERepo:
CA1244159/MONDO:0007665/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636673G>A , CM000663.2:g.171636673G>A | GRCh38 |
| NC_000001.10:g.171605813G>A , CM000663.1:g.171605813G>A | GRCh37 |
| NC_000001.9:g.169872436G>A | NCBI36 |
| NG_008859.1:g.20961C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.767C>T (MYOC) MANE Select | ENSP00000037502.5:p.Thr256Met | |
| ENST00000637303.1:c.235-1957G>A (MYOCOS) | ENSP00000490048.1:n.235-1957G>A | |
| ENST00000638471.1:c.*105C>T (MYOC) | ENSP00000491206.1:n.*105C>T | |
| ENST00000037502.10:c.767C>T (MYOC) | ENSP00000037502.5:p.Thr256Met | |
| ENST00000614688.1:c.767C>T (MYOC) | ENSP00000478680.1:p.Thr256Met | |
| NM_000261.1:c.767C>T (MYOC) | NP_000252.1:p.Thr256Met | |
| NM_000261.2:c.767C>T (MYOC) MANE Select | NP_000252.1:p.Thr256Met |