Linked Data
ClinVar Variation Id:
1342200
ClinVar RCV Id:
RCV001838867
dbSNP Id:
rs1652920956
gnomAD v4:
1-171636361-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636361A>T , CM000663.2:g.171636361A>T | GRCh38 |
| NC_000001.10:g.171605501A>T , CM000663.1:g.171605501A>T | GRCh37 |
| NC_000001.9:g.169872124A>T | NCBI36 |
| NG_008859.1:g.21273T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1079T>A (MYOC) MANE Select | ENSP00000037502.5:p.Ile360Asn | |
| ENST00000637303.1:c.235-2269A>T (MYOCOS) | ENSP00000490048.1:n.235-2269A>T | |
| ENST00000638471.1:c.*417T>A (MYOC) | ENSP00000491206.1:n.*417T>A | |
| ENST00000037502.10:c.1079T>A (MYOC) | ENSP00000037502.5:p.Ile360Asn | |
| ENST00000614688.1:c.*43T>A (MYOC) | ENSP00000478680.1:n.*43T>A | |
| NM_000261.1:c.1079T>A (MYOC) | NP_000252.1:p.Ile360Asn | |
| NM_000261.2:c.1079T>A (MYOC) MANE Select | NP_000252.1:p.Ile360Asn |