Linked Data
ClinVar Variation Id:
1308204
ClinVar RCV Id:
RCV001774115
dbSNP Id:
rs764112994
gnomAD v3:
1-171636014-T-C
gnomAD v4:
1-171636014-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636014T>C , CM000663.2:g.171636014T>C | GRCh38 |
| NC_000001.10:g.171605154T>C , CM000663.1:g.171605154T>C | GRCh37 |
| NC_000001.9:g.169871777T>C | NCBI36 |
| NG_008859.1:g.21620A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1426A>G (MYOC) MANE Select | ENSP00000037502.5:p.Met476Val | |
| ENST00000637303.1:c.235-2616T>C (MYOCOS) | ENSP00000490048.1:n.235-2616T>C | |
| ENST00000638471.1:c.*764A>G (MYOC) | ENSP00000491206.1:n.*764A>G | |
| ENST00000037502.10:c.1426A>G (MYOC) | ENSP00000037502.5:p.Met476Val | |
| ENST00000614688.1:c.*390A>G (MYOC) | ENSP00000478680.1:n.*390A>G | |
| NM_000261.1:c.1426A>G (MYOC) | NP_000252.1:p.Met476Val | |
| NM_000261.2:c.1426A>G (MYOC) MANE Select | NP_000252.1:p.Met476Val |