Linked Data
ClinVar Variation Id:
1723172
ClinVar RCV Id:
RCV002306272
dbSNP Id:
rs1041675997
gnomAD v2:
1-171605683-A-G
gnomAD v4:
1-171636543-A-G
ERepo:
CA32686006/MONDO:0007665/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636543A>G , CM000663.2:g.171636543A>G | GRCh38 |
| NC_000001.10:g.171605683A>G , CM000663.1:g.171605683A>G | GRCh37 |
| NC_000001.9:g.169872306A>G | NCBI36 |
| NG_008859.1:g.21091T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.897T>C (MYOC) MANE Select | ENSP00000037502.5:p.Phe299= | |
| ENST00000637303.1:c.235-2087A>G (MYOCOS) | ENSP00000490048.1:n.235-2087A>G | |
| ENST00000638471.1:c.*235T>C (MYOC) | ENSP00000491206.1:n.*235T>C | |
| ENST00000037502.10:c.897T>C (MYOC) | ENSP00000037502.5:p.Phe299= | |
| ENST00000614688.1:c.897T>C (MYOC) | ENSP00000478680.1:p.Phe299= | |
| NM_000261.1:c.897T>C (MYOC) | NP_000252.1:p.Phe299= | |
| NM_000261.2:c.897T>C (MYOC) MANE Select | NP_000252.1:p.Phe299= |