Linked Data
ClinVar Variation Id:
2429763
ClinVar RCV Id:
RCV003127216
dbSNP Id:
rs1378048690
gnomAD v2:
1-171605128-C-T
gnomAD v3:
1-171635988-C-T
gnomAD v4:
1-171635988-C-T
COSMIC:
COSM3478327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171635988C>T , CM000663.2:g.171635988C>T | GRCh38 |
| NC_000001.10:g.171605128C>T , CM000663.1:g.171605128C>T | GRCh37 |
| NC_000001.9:g.169871751C>T | NCBI36 |
| NG_008859.1:g.21646G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1452G>A (MYOC) MANE Select | ENSP00000037502.5:p.Lys484= | |
| ENST00000637303.1:c.235-2642C>T (MYOCOS) | ENSP00000490048.1:n.235-2642C>T | |
| ENST00000638471.1:c.*790G>A (MYOC) | ENSP00000491206.1:n.*790G>A | |
| ENST00000037502.10:c.1452G>A (MYOC) | ENSP00000037502.5:p.Lys484= | |
| ENST00000614688.1:c.*416G>A (MYOC) | ENSP00000478680.1:n.*416G>A | |
| NM_000261.1:c.1452G>A (MYOC) | NP_000252.1:p.Lys484= | |
| NM_000261.2:c.1452G>A (MYOC) MANE Select | NP_000252.1:p.Lys484= |