Linked Data
ClinVar Variation Id:
2498110
ClinVar RCV Id:
RCV003219171
dbSNP Id:
rs1280400300
gnomAD v2:
1-171605569-C-A
gnomAD v3:
1-171636429-C-A
gnomAD v4:
1-171636429-C-A
COSMIC:
COSM3478332
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636429C>A , CM000663.2:g.171636429C>A | GRCh38 |
| NC_000001.10:g.171605569C>A , CM000663.1:g.171605569C>A | GRCh37 |
| NC_000001.9:g.169872192C>A | NCBI36 |
| NG_008859.1:g.21205G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1011G>T (MYOC) MANE Select | ENSP00000037502.5:p.Gln337His | |
| ENST00000637303.1:c.235-2201C>A (MYOCOS) | ENSP00000490048.1:n.235-2201C>A | |
| ENST00000638471.1:c.*349G>T (MYOC) | ENSP00000491206.1:n.*349G>T | |
| ENST00000037502.10:c.1011G>T (MYOC) | ENSP00000037502.5:p.Gln337His | |
| ENST00000614688.1:c.1010G>T (MYOC) | ENSP00000478680.1:p.Arg337Met | |
| NM_000261.1:c.1011G>T (MYOC) | NP_000252.1:p.Gln337His | |
| NM_000261.2:c.1011G>T (MYOC) MANE Select | NP_000252.1:p.Gln337His |