Linked Data
ClinVar Variation Id:
2570621
ClinVar RCV Id:
RCV003307381
dbSNP Id:
rs776513776
ExAC:
1:171605117 G / A
gnomAD v2:
1-171605117-G-A
gnomAD v4:
1-171635977-G-A
COSMIC:
COSM5477795
ERepo:
CA1244017/MONDO:0007665/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171635977G>A , CM000663.2:g.171635977G>A | GRCh38 |
| NC_000001.10:g.171605117G>A , CM000663.1:g.171605117G>A | GRCh37 |
| NC_000001.9:g.169871740G>A | NCBI36 |
| NG_008859.1:g.21657C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1463C>T (MYOC) MANE Select | ENSP00000037502.5:p.Ala488Val | |
| ENST00000637303.1:c.235-2653G>A (MYOCOS) | ENSP00000490048.1:n.235-2653G>A | |
| ENST00000638471.1:c.*801C>T (MYOC) | ENSP00000491206.1:n.*801C>T | |
| ENST00000037502.10:c.1463C>T (MYOC) | ENSP00000037502.5:p.Ala488Val | |
| ENST00000614688.1:c.*427C>T (MYOC) | ENSP00000478680.1:n.*427C>T | |
| NM_000261.1:c.1463C>T (MYOC) | NP_000252.1:p.Ala488Val | |
| NM_000261.2:c.1463C>T (MYOC) MANE Select | NP_000252.1:p.Ala488Val |