Linked Data
ClinVar Variation Id:
2498111
ClinVar RCV Id:
RCV003219172
dbSNP Id:
rs534806873
ExAC:
1:171605560 C / T
gnomAD v2:
1-171605560-C-T
gnomAD v3:
1-171636420-C-T
gnomAD v4:
1-171636420-C-T
ERepo:
CA1244094/MONDO:0020367/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636420C>T , CM000663.2:g.171636420C>T | GRCh38 |
| NC_000001.10:g.171605560C>T , CM000663.1:g.171605560C>T | GRCh37 |
| NC_000001.9:g.169872183C>T | NCBI36 |
| NG_008859.1:g.21214G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1020G>A (MYOC) MANE Select | ENSP00000037502.5:p.Glu340= | |
| ENST00000637303.1:c.235-2210C>T (MYOCOS) | ENSP00000490048.1:n.235-2210C>T | |
| ENST00000638471.1:c.*358G>A (MYOC) | ENSP00000491206.1:n.*358G>A | |
| ENST00000037502.10:c.1020G>A (MYOC) | ENSP00000037502.5:p.Glu340= | |
| ENST00000614688.1:c.1019G>A (MYOC) | ENSP00000478680.1:p.Ser340Asn | |
| NM_000261.1:c.1020G>A (MYOC) | NP_000252.1:p.Glu340= | |
| NM_000261.2:c.1020G>A (MYOC) MANE Select | NP_000252.1:p.Glu340= |