Linked Data
ClinVar Variation Id:
2089889
ClinVar RCV Id:
RCV003005717
dbSNP Id:
rs1187084570
gnomAD v2:
1-171605379-T-G
gnomAD v4:
1-171636239-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636239T>G , CM000663.2:g.171636239T>G | GRCh38 |
| NC_000001.10:g.171605379T>G , CM000663.1:g.171605379T>G | GRCh37 |
| NC_000001.9:g.169872002T>G | NCBI36 |
| NG_008859.1:g.21395A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1201A>C (MYOC) MANE Select | ENSP00000037502.5:p.Ile401Leu | |
| ENST00000637303.1:c.235-2391T>G (MYOCOS) | ENSP00000490048.1:n.235-2391T>G | |
| ENST00000638471.1:c.*539A>C (MYOC) | ENSP00000491206.1:n.*539A>C | |
| ENST00000037502.10:c.1201A>C (MYOC) | ENSP00000037502.5:p.Ile401Leu | |
| ENST00000614688.1:c.*165A>C (MYOC) | ENSP00000478680.1:n.*165A>C | |
| NM_000261.1:c.1201A>C (MYOC) | NP_000252.1:p.Ile401Leu | |
| NM_000261.2:c.1201A>C (MYOC) MANE Select | NP_000252.1:p.Ile401Leu |