Linked Data
dbSNP Id:
rs61730974
ExAC:
1:171605539 A / C
gnomAD v2:
1-171605539-A-C
gnomAD v3:
1-171636399-A-C
gnomAD v4:
1-171636399-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636399A>C , CM000663.2:g.171636399A>C | GRCh38 |
| NC_000001.10:g.171605539A>C , CM000663.1:g.171605539A>C | GRCh37 |
| NC_000001.9:g.169872162A>C | NCBI36 |
| NG_008859.1:g.21235T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1041T>G (MYOC) MANE Select | ENSP00000037502.5:p.Tyr347Ter | |
| ENST00000637303.1:c.235-2231A>C (MYOCOS) | ENSP00000490048.1:n.235-2231A>C | |
| ENST00000638471.1:c.*379T>G (MYOC) | ENSP00000491206.1:n.*379T>G | |
| ENST00000037502.10:c.1041T>G (MYOC) | ENSP00000037502.5:p.Tyr347Ter | |
| ENST00000614688.1:c.*5T>G (MYOC) | ENSP00000478680.1:n.*5T>G | |
| NM_000261.1:c.1041T>G (MYOC) | NP_000252.1:p.Tyr347Ter | |
| NM_000261.2:c.1041T>G (MYOC) MANE Select | NP_000252.1:p.Tyr347Ter |