Linked Data
ClinVar Variation Id:
2575096
ClinVar RCV Id:
RCV003320021
dbSNP Id:
rs1270841723
gnomAD v2:
1-171605325-T-C
gnomAD v4:
1-171636185-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636185T>C , CM000663.2:g.171636185T>C | GRCh38 |
| NC_000001.10:g.171605325T>C , CM000663.1:g.171605325T>C | GRCh37 |
| NC_000001.9:g.169871948T>C | NCBI36 |
| NG_008859.1:g.21449A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1255A>G (MYOC) MANE Select | ENSP00000037502.5:p.Thr419Ala | |
| ENST00000637303.1:c.235-2445T>C (MYOCOS) | ENSP00000490048.1:n.235-2445T>C | |
| ENST00000638471.1:c.*593A>G (MYOC) | ENSP00000491206.1:n.*593A>G | |
| ENST00000037502.10:c.1255A>G (MYOC) | ENSP00000037502.5:p.Thr419Ala | |
| ENST00000614688.1:c.*219A>G (MYOC) | ENSP00000478680.1:n.*219A>G | |
| NM_000261.1:c.1255A>G (MYOC) | NP_000252.1:p.Thr419Ala | |
| NM_000261.2:c.1255A>G (MYOC) MANE Select | NP_000252.1:p.Thr419Ala |