Linked Data
dbSNP Id:
rs780460955
ExAC:
1:171605667 T / G
gnomAD v2:
1-171605667-T-G
gnomAD v4:
1-171636527-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636527T>G , CM000663.2:g.171636527T>G | GRCh38 |
| NC_000001.10:g.171605667T>G , CM000663.1:g.171605667T>G | GRCh37 |
| NC_000001.9:g.169872290T>G | NCBI36 |
| NG_008859.1:g.21107A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.913A>C (MYOC) MANE Select | ENSP00000037502.5:p.Ser305Arg | |
| ENST00000637303.1:c.235-2103T>G (MYOCOS) | ENSP00000490048.1:n.235-2103T>G | |
| ENST00000638471.1:c.*251A>C (MYOC) | ENSP00000491206.1:n.*251A>C | |
| ENST00000037502.10:c.913A>C (MYOC) | ENSP00000037502.5:p.Ser305Arg | |
| ENST00000614688.1:c.913A>C (MYOC) | ENSP00000478680.1:p.Ser305Arg | |
| NM_000261.1:c.913A>C (MYOC) | NP_000252.1:p.Ser305Arg | |
| NM_000261.2:c.913A>C (MYOC) MANE Select | NP_000252.1:p.Ser305Arg |