Linked Data
dbSNP Id:
rs1652913007
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636119T>G , CM000663.2:g.171636119T>G | GRCh38 |
| NC_000001.10:g.171605259T>G , CM000663.1:g.171605259T>G | GRCh37 |
| NC_000001.9:g.169871882T>G | NCBI36 |
| NG_008859.1:g.21515A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1321A>C (MYOC) MANE Select | ENSP00000037502.5:p.Ser441Arg | |
| ENST00000637303.1:c.235-2511T>G (MYOCOS) | ENSP00000490048.1:n.235-2511T>G | |
| ENST00000638471.1:c.*659A>C (MYOC) | ENSP00000491206.1:n.*659A>C | |
| ENST00000037502.10:c.1321A>C (MYOC) | ENSP00000037502.5:p.Ser441Arg | |
| ENST00000614688.1:c.*285A>C (MYOC) | ENSP00000478680.1:n.*285A>C | |
| NM_000261.1:c.1321A>C (MYOC) | NP_000252.1:p.Ser441Arg | |
| NM_000261.2:c.1321A>C (MYOC) MANE Select | NP_000252.1:p.Ser441Arg |