Linked Data
ClinVar Variation Id:
293706
dbSNP Id:
rs886045563
gnomAD v2:
1-171604883-G-T
gnomAD v3:
1-171635743-G-T
gnomAD v4:
1-171635743-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171635743G>T , CM000663.2:g.171635743G>T | GRCh38 |
| NC_000001.10:g.171604883G>T , CM000663.1:g.171604883G>T | GRCh37 |
| NC_000001.9:g.169871506G>T | NCBI36 |
| NG_008859.1:g.21891C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.*182C>A (MYOC) MANE Select | ENSP00000037502.5:n.*182C>A | |
| ENST00000637303.1:c.235-2887G>T (MYOCOS) | ENSP00000490048.1:n.235-2887G>T | |
| ENST00000638471.1:c.*1035C>A (MYOC) | ENSP00000491206.1:n.*1035C>A | |
| ENST00000037502.10:c.*182C>A (MYOC) | ENSP00000037502.5:n.*182C>A | |
| ENST00000614688.1:c.*661C>A (MYOC) | ENSP00000478680.1:n.*661C>A | |
| NM_000261.1:c.*182C>A (MYOC) | NP_000252.1:n.*182C>A | |
| NM_000261.2:c.*182C>A (MYOC) MANE Select | NP_000252.1:n.*182C>A |