Linked Data
ClinVar Variation Id:
1723173
dbSNP Id:
rs144469479
ExAC:
1:171605673 G / T
gnomAD v2:
1-171605673-G-T
gnomAD v3:
1-171636533-G-T
gnomAD v4:
1-171636533-G-T
ERepo:
CA1244122/MONDO:0007665/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636533G>T , CM000663.2:g.171636533G>T | GRCh38 |
| NC_000001.10:g.171605673G>T , CM000663.1:g.171605673G>T | GRCh37 |
| NC_000001.9:g.169872296G>T | NCBI36 |
| NG_008859.1:g.21101C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.907C>A (MYOC) MANE Select | ENSP00000037502.5:p.Leu303Ile | |
| ENST00000637303.1:c.235-2097G>T (MYOCOS) | ENSP00000490048.1:n.235-2097G>T | |
| ENST00000638471.1:c.*245C>A (MYOC) | ENSP00000491206.1:n.*245C>A | |
| ENST00000037502.10:c.907C>A (MYOC) | ENSP00000037502.5:p.Leu303Ile | |
| ENST00000614688.1:c.907C>A (MYOC) | ENSP00000478680.1:p.Leu303Ile | |
| NM_000261.1:c.907C>A (MYOC) | NP_000252.1:p.Leu303Ile | |
| NM_000261.2:c.907C>A (MYOC) MANE Select | NP_000252.1:p.Leu303Ile |