Linked Data
ClinVar Variation Id:
1342203
ClinVar RCV Id:
RCV001838870
dbSNP Id:
rs2102944632
gnomAD v4:
1-171636301-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636301T>G , CM000663.2:g.171636301T>G | GRCh38 |
| NC_000001.10:g.171605441T>G , CM000663.1:g.171605441T>G | GRCh37 |
| NC_000001.9:g.169872064T>G | NCBI36 |
| NG_008859.1:g.21333A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1139A>C (MYOC) MANE Select | ENSP00000037502.5:p.Asp380Ala | |
| ENST00000637303.1:c.235-2329T>G (MYOCOS) | ENSP00000490048.1:n.235-2329T>G | |
| ENST00000638471.1:c.*477A>C (MYOC) | ENSP00000491206.1:n.*477A>C | |
| ENST00000037502.10:c.1139A>C (MYOC) | ENSP00000037502.5:p.Asp380Ala | |
| ENST00000614688.1:c.*103A>C (MYOC) | ENSP00000478680.1:n.*103A>C | |
| NM_000261.1:c.1139A>C (MYOC) | NP_000252.1:p.Asp380Ala | |
| NM_000261.2:c.1139A>C (MYOC) MANE Select | NP_000252.1:p.Asp380Ala |