Linked Data
ClinVar Variation Id:
7948
dbSNP Id:
rs74315330
COSMIC:
COSM5795866
ERepo:
CA119171/MONDO:0020367/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636331G>A , CM000663.2:g.171636331G>A | GRCh38 |
| NC_000001.10:g.171605471G>A , CM000663.1:g.171605471G>A | GRCh37 |
| NC_000001.9:g.169872094G>A | NCBI36 |
| NG_008859.1:g.21303C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000037502.11:c.1109C>T (MYOC) MANE Select | ENSP00000037502.5:p.Pro370Leu | |
| ENST00000637303.1:c.235-2299G>A (MYOCOS) | ENSP00000490048.1:n.235-2299G>A | |
| ENST00000638471.1:c.*447C>T (MYOC) | ENSP00000491206.1:n.*447C>T | |
| ENST00000037502.10:c.1109C>T (MYOC) | ENSP00000037502.5:p.Pro370Leu | |
| ENST00000614688.1:c.*73C>T (MYOC) | ENSP00000478680.1:n.*73C>T | |
| NM_000261.1:c.1109C>T (MYOC) | NP_000252.1:p.Pro370Leu | |
| NM_000261.2:c.1109C>T (MYOC) MANE Select | NP_000252.1:p.Pro370Leu |