Linked Data
ClinVar Variation Id:
1342201
ClinVar RCV Id:
RCV001838868
dbSNP Id:
rs989306028
gnomAD v4:
1-171636321-C-T
COSMIC:
COSM4521596
ERepo:
CA32685688/MONDO:0007665/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636321C>T , CM000663.2:g.171636321C>T | GRCh38 |
| NC_000001.10:g.171605461C>T , CM000663.1:g.171605461C>T | GRCh37 |
| NC_000001.9:g.169872084C>T | NCBI36 |
| NG_008859.1:g.21313G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1119G>A (MYOC) MANE Select | ENSP00000037502.5:p.Trp373Ter | |
| ENST00000637303.1:c.235-2309C>T (MYOCOS) | ENSP00000490048.1:n.235-2309C>T | |
| ENST00000638471.1:c.*457G>A (MYOC) | ENSP00000491206.1:n.*457G>A | |
| ENST00000037502.10:c.1119G>A (MYOC) | ENSP00000037502.5:p.Trp373Ter | |
| ENST00000614688.1:c.*83G>A (MYOC) | ENSP00000478680.1:n.*83G>A | |
| NM_000261.1:c.1119G>A (MYOC) | NP_000252.1:p.Trp373Ter | |
| NM_000261.2:c.1119G>A (MYOC) MANE Select | NP_000252.1:p.Trp373Ter |