Linked Data
dbSNP Id:
rs766321647
ExAC:
1:171605623 AG / A
gnomAD v2:
1-171605623-AG-A
gnomAD v4:
1-171636483-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636485del , CM000663.2:g.171636485del | GRCh38 |
| NC_000001.10:g.171605625del , CM000663.1:g.171605625del | GRCh37 |
| NC_000001.9:g.169872248del | NCBI36 |
| NG_008859.1:g.21150del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.956del (MYOC) MANE Select | ENSP00000037502.5:p.Pro319LeufsTer27 | |
| ENST00000637303.1:c.235-2145del (MYOCOS) | ENSP00000490048.1:n.235-2145del | |
| ENST00000638471.1:c.*294del (MYOC) | ENSP00000491206.1:n.*294del | |
| ENST00000037502.10:c.956del (MYOC) | ENSP00000037502.5:p.Pro319LeufsTer27 | |
| ENST00000614688.1:c.956del (MYOC) | ENSP00000478680.1:p.Pro319LeufsTer21 | |
| NM_000261.1:c.956del (MYOC) | NP_000252.1:p.Pro319LeufsTer27 | |
| NM_000261.2:c.956del (MYOC) MANE Select | NP_000252.1:p.Pro319LeufsTer27 |