Linked Data
ClinVar Variation Id:
2570619
ClinVar RCV Id:
RCV003307379
dbSNP Id:
rs765809047
ExAC:
1:171605395 A / C
gnomAD v2:
1-171605395-A-C
gnomAD v3:
1-171636255-A-C
gnomAD v4:
1-171636255-A-C
ERepo:
CA1244068/MONDO:0007665/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636255A>C , CM000663.2:g.171636255A>C | GRCh38 |
| NC_000001.10:g.171605395A>C , CM000663.1:g.171605395A>C | GRCh37 |
| NC_000001.9:g.169872018A>C | NCBI36 |
| NG_008859.1:g.21379T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1185T>G (MYOC) MANE Select | ENSP00000037502.5:p.Asp395Glu | |
| ENST00000637303.1:c.235-2375A>C (MYOCOS) | ENSP00000490048.1:n.235-2375A>C | |
| ENST00000638471.1:c.*523T>G (MYOC) | ENSP00000491206.1:n.*523T>G | |
| ENST00000037502.10:c.1185T>G (MYOC) | ENSP00000037502.5:p.Asp395Glu | |
| ENST00000614688.1:c.*149T>G (MYOC) | ENSP00000478680.1:n.*149T>G | |
| NM_000261.1:c.1185T>G (MYOC) | NP_000252.1:p.Asp395Glu | |
| NM_000261.2:c.1185T>G (MYOC) MANE Select | NP_000252.1:p.Asp395Glu |