Linked Data
ClinVar Variation Id:
2505286
ClinVar RCV Id:
RCV003233463
dbSNP Id:
rs772246395
ExAC:
1:171605278 G / A
gnomAD v2:
1-171605278-G-A
gnomAD v4:
1-171636138-G-A
ERepo:
CA1244046/MONDO:0007665/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636138G>A , CM000663.2:g.171636138G>A | GRCh38 |
| NC_000001.10:g.171605278G>A , CM000663.1:g.171605278G>A | GRCh37 |
| NC_000001.9:g.169871901G>A | NCBI36 |
| NG_008859.1:g.21496C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1302C>T (MYOC) MANE Select | ENSP00000037502.5:p.Gly434= | |
| ENST00000637303.1:c.235-2492G>A (MYOCOS) | ENSP00000490048.1:n.235-2492G>A | |
| ENST00000638471.1:c.*640C>T (MYOC) | ENSP00000491206.1:n.*640C>T | |
| ENST00000037502.10:c.1302C>T (MYOC) | ENSP00000037502.5:p.Gly434= | |
| ENST00000614688.1:c.*266C>T (MYOC) | ENSP00000478680.1:n.*266C>T | |
| NM_000261.1:c.1302C>T (MYOC) | NP_000252.1:p.Gly434= | |
| NM_000261.2:c.1302C>T (MYOC) MANE Select | NP_000252.1:p.Gly434= |