Linked Data
gnomAD v4:
1-171635983-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171635983A>G , CM000663.2:g.171635983A>G | GRCh38 |
| NC_000001.10:g.171605123A>G , CM000663.1:g.171605123A>G | GRCh37 |
| NC_000001.9:g.169871746A>G | NCBI36 |
| NG_008859.1:g.21651T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1457T>C (MYOC) MANE Select | ENSP00000037502.5:p.Leu486Pro | |
| ENST00000637303.1:c.235-2647A>G (MYOCOS) | ENSP00000490048.1:n.235-2647A>G | |
| ENST00000638471.1:c.*795T>C (MYOC) | ENSP00000491206.1:n.*795T>C | |
| ENST00000037502.10:c.1457T>C (MYOC) | ENSP00000037502.5:p.Leu486Pro | |
| ENST00000614688.1:c.*421T>C (MYOC) | ENSP00000478680.1:n.*421T>C | |
| NM_000261.1:c.1457T>C (MYOC) | NP_000252.1:p.Leu486Pro | |
| NM_000261.2:c.1457T>C (MYOC) MANE Select | NP_000252.1:p.Leu486Pro |