Linked Data
ClinVar Variation Id:
2442280
ClinVar RCV Id:
RCV003148609
dbSNP Id:
rs907466277
gnomAD v4:
1-171636549-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636549C>G , CM000663.2:g.171636549C>G | GRCh38 |
| NC_000001.10:g.171605689C>G , CM000663.1:g.171605689C>G | GRCh37 |
| NC_000001.9:g.169872312C>G | NCBI36 |
| NG_008859.1:g.21085G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.891G>C (MYOC) MANE Select | ENSP00000037502.5:p.Gln297His | |
| ENST00000637303.1:c.235-2081C>G (MYOCOS) | ENSP00000490048.1:n.235-2081C>G | |
| ENST00000638471.1:c.*229G>C (MYOC) | ENSP00000491206.1:n.*229G>C | |
| ENST00000037502.10:c.891G>C (MYOC) | ENSP00000037502.5:p.Gln297His | |
| ENST00000614688.1:c.891G>C (MYOC) | ENSP00000478680.1:p.Gln297His | |
| NM_000261.1:c.891G>C (MYOC) | NP_000252.1:p.Gln297His | |
| NM_000261.2:c.891G>C (MYOC) MANE Select | NP_000252.1:p.Gln297His |