Linked Data
dbSNP Id:
rs1652924935
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636479del , CM000663.2:g.171636479del | GRCh38 |
| NC_000001.10:g.171605619del , CM000663.1:g.171605619del | GRCh37 |
| NC_000001.9:g.169872242del | NCBI36 |
| NG_008859.1:g.21156del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.962del (MYOC) MANE Select | ENSP00000037502.5:p.Pro321HisfsTer25 | |
| ENST00000637303.1:c.235-2151del (MYOCOS) | ENSP00000490048.1:n.235-2151del | |
| ENST00000638471.1:c.*300del (MYOC) | ENSP00000491206.1:n.*300del | |
| ENST00000037502.10:c.962del (MYOC) | ENSP00000037502.5:p.Pro321HisfsTer25 | |
| ENST00000614688.1:c.962del (MYOC) | ENSP00000478680.1:p.Pro321HisfsTer19 | |
| NM_000261.1:c.962del (MYOC) | NP_000252.1:p.Pro321HisfsTer25 | |
| NM_000261.2:c.962del (MYOC) MANE Select | NP_000252.1:p.Pro321HisfsTer25 |