Linked Data
ClinVar Variation Id:
875083
dbSNP Id:
rs750333892
ExAC:
1:171605779 A / G
gnomAD v2:
1-171605779-A-G
gnomAD v4:
1-171636639-A-G
ERepo:
CA1244154/MONDO:0007665/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636639A>G , CM000663.2:g.171636639A>G | GRCh38 |
| NC_000001.10:g.171605779A>G , CM000663.1:g.171605779A>G | GRCh37 |
| NC_000001.9:g.169872402A>G | NCBI36 |
| NG_008859.1:g.20995T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.801T>C (MYOC) MANE Select | ENSP00000037502.5:p.Tyr267= | |
| ENST00000637303.1:c.235-1991A>G (MYOCOS) | ENSP00000490048.1:n.235-1991A>G | |
| ENST00000638471.1:c.*139T>C (MYOC) | ENSP00000491206.1:n.*139T>C | |
| ENST00000037502.10:c.801T>C (MYOC) | ENSP00000037502.5:p.Tyr267= | |
| ENST00000614688.1:c.801T>C (MYOC) | ENSP00000478680.1:p.Tyr267= | |
| NM_000261.1:c.801T>C (MYOC) | NP_000252.1:p.Tyr267= | |
| NM_000261.2:c.801T>C (MYOC) MANE Select | NP_000252.1:p.Tyr267= |