Linked Data
ClinVar Variation Id:
1342209
ClinVar RCV Id:
RCV001838876
dbSNP Id:
rs757769997
ExAC:
1:171605849 C / A
gnomAD v2:
1-171605849-C-A
gnomAD v3:
1-171636709-C-A
gnomAD v4:
1-171636709-C-A
ERepo:
CA1244164/MONDO:0007665/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636709C>A , CM000663.2:g.171636709C>A | GRCh38 |
| NC_000001.10:g.171605849C>A , CM000663.1:g.171605849C>A | GRCh37 |
| NC_000001.9:g.169872472C>A | NCBI36 |
| NG_008859.1:g.20925G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.731G>T (MYOC) MANE Select | ENSP00000037502.5:p.Gly244Val | |
| ENST00000637303.1:c.235-1921C>A (MYOCOS) | ENSP00000490048.1:n.235-1921C>A | |
| ENST00000638471.1:c.*69G>T (MYOC) | ENSP00000491206.1:n.*69G>T | |
| ENST00000037502.10:c.731G>T (MYOC) | ENSP00000037502.5:p.Gly244Val | |
| ENST00000614688.1:c.731G>T (MYOC) | ENSP00000478680.1:p.Gly244Val | |
| NM_000261.1:c.731G>T (MYOC) | NP_000252.1:p.Gly244Val | |
| NM_000261.2:c.731G>T (MYOC) MANE Select | NP_000252.1:p.Gly244Val |