Linked Data
ClinVar Variation Id:
876020
dbSNP Id:
rs2234927
ExAC:
1:171607843 G / C
gnomAD v2:
1-171607843-G-C
gnomAD v3:
1-171638703-G-C
gnomAD v4:
1-171638703-G-C
ERepo:
CA1244210/MONDO:0007665/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171638703G>C , CM000663.2:g.171638703G>C | GRCh38 |
| NC_000001.10:g.171607843G>C , CM000663.1:g.171607843G>C | GRCh37 |
| NC_000001.9:g.169874466G>C | NCBI36 |
| NG_008859.1:g.18931C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.624C>G (MYOC) MANE Select | ENSP00000037502.5:p.Asp208Glu | |
| ENST00000637303.1:c.308G>C (MYOCOS) | ENSP00000490048.1:p.Cys103Ser | |
| ENST00000638471.1:c.154C>G (MYOC) | ENSP00000491206.1:p.His52Asp | |
| ENST00000037502.10:c.624C>G (MYOC) | ENSP00000037502.5:p.Asp208Glu | |
| ENST00000614688.1:c.624C>G (MYOC) | ENSP00000478680.1:p.Asp208Glu | |
| NM_000261.1:c.624C>G (MYOC) | NP_000252.1:p.Asp208Glu | |
| NM_000261.2:c.624C>G (MYOC) MANE Select | NP_000252.1:p.Asp208Glu |