Linked Data
ClinVar Variation Id:
875954
dbSNP Id:
rs760065904
ExAC:
1:171605308 C / G
gnomAD v2:
1-171605308-C-G
gnomAD v4:
1-171636168-C-G
ERepo:
CA1244051/MONDO:0007665/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636168C>G , CM000663.2:g.171636168C>G | GRCh38 |
| NC_000001.10:g.171605308C>G , CM000663.1:g.171605308C>G | GRCh37 |
| NC_000001.9:g.169871931C>G | NCBI36 |
| NG_008859.1:g.21466G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1272G>C (MYOC) MANE Select | ENSP00000037502.5:p.Gln424His | |
| ENST00000637303.1:c.235-2462C>G (MYOCOS) | ENSP00000490048.1:n.235-2462C>G | |
| ENST00000638471.1:c.*610G>C (MYOC) | ENSP00000491206.1:n.*610G>C | |
| ENST00000037502.10:c.1272G>C (MYOC) | ENSP00000037502.5:p.Gln424His | |
| ENST00000614688.1:c.*236G>C (MYOC) | ENSP00000478680.1:n.*236G>C | |
| NM_000261.1:c.1272G>C (MYOC) | NP_000252.1:p.Gln424His | |
| NM_000261.2:c.1272G>C (MYOC) MANE Select | NP_000252.1:p.Gln424His |