Linked Data
ClinVar Variation Id:
2505287
ClinVar RCV Id:
RCV003233464
dbSNP Id:
rs749960559
ExAC:
1:171605420 C / T
gnomAD v2:
1-171605420-C-T
gnomAD v4:
1-171636280-C-T
ERepo:
CA1244072/MONDO:0007665/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636280C>T , CM000663.2:g.171636280C>T | GRCh38 |
| NC_000001.10:g.171605420C>T , CM000663.1:g.171605420C>T | GRCh37 |
| NC_000001.9:g.169872043C>T | NCBI36 |
| NG_008859.1:g.21354G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1160G>A (MYOC) MANE Select | ENSP00000037502.5:p.Gly387Asp | |
| ENST00000637303.1:c.235-2350C>T (MYOCOS) | ENSP00000490048.1:n.235-2350C>T | |
| ENST00000638471.1:c.*498G>A (MYOC) | ENSP00000491206.1:n.*498G>A | |
| ENST00000037502.10:c.1160G>A (MYOC) | ENSP00000037502.5:p.Gly387Asp | |
| ENST00000614688.1:c.*124G>A (MYOC) | ENSP00000478680.1:n.*124G>A | |
| NM_000261.1:c.1160G>A (MYOC) | NP_000252.1:p.Gly387Asp | |
| NM_000261.2:c.1160G>A (MYOC) MANE Select | NP_000252.1:p.Gly387Asp |