Linked Data
dbSNP Id:
rs748516657
ExAC:
1:171605730 T / C
gnomAD v2:
1-171605730-T-C
gnomAD v4:
1-171636590-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636590T>C , CM000663.2:g.171636590T>C | GRCh38 |
| NC_000001.10:g.171605730T>C , CM000663.1:g.171605730T>C | GRCh37 |
| NC_000001.9:g.169872353T>C | NCBI36 |
| NG_008859.1:g.21044A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.850A>G (MYOC) MANE Select | ENSP00000037502.5:p.Thr284Ala | |
| ENST00000637303.1:c.235-2040T>C (MYOCOS) | ENSP00000490048.1:n.235-2040T>C | |
| ENST00000638471.1:c.*188A>G (MYOC) | ENSP00000491206.1:n.*188A>G | |
| ENST00000037502.10:c.850A>G (MYOC) | ENSP00000037502.5:p.Thr284Ala | |
| ENST00000614688.1:c.850A>G (MYOC) | ENSP00000478680.1:p.Thr284Ala | |
| NM_000261.1:c.850A>G (MYOC) | NP_000252.1:p.Thr284Ala | |
| NM_000261.2:c.850A>G (MYOC) MANE Select | NP_000252.1:p.Thr284Ala |