Linked Data
ClinVar Variation Id:
7957
dbSNP Id:
rs28936694
ExAC:
1:171605384 C / A
gnomAD v2:
1-171605384-C-A
gnomAD v4:
1-171636244-C-A
PubMed:
PMID:11774072
ERepo:
CA119182/MONDO:0020367/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636244C>A , CM000663.2:g.171636244C>A | GRCh38 |
| NC_000001.10:g.171605384C>A , CM000663.1:g.171605384C>A | GRCh37 |
| NC_000001.9:g.169872007C>A | NCBI36 |
| NG_008859.1:g.21390G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1196G>T (MYOC) MANE Select | ENSP00000037502.5:p.Gly399Val | |
| ENST00000637303.1:c.235-2386C>A (MYOCOS) | ENSP00000490048.1:n.235-2386C>A | |
| ENST00000638471.1:c.*534G>T (MYOC) | ENSP00000491206.1:n.*534G>T | |
| ENST00000037502.10:c.1196G>T (MYOC) | ENSP00000037502.5:p.Gly399Val | |
| ENST00000614688.1:c.*160G>T (MYOC) | ENSP00000478680.1:n.*160G>T | |
| NM_000261.1:c.1196G>T (MYOC) | NP_000252.1:p.Gly399Val | |
| NM_000261.2:c.1196G>T (MYOC) MANE Select | NP_000252.1:p.Gly399Val |