Linked Data
ClinVar Variation Id:
631578
dbSNP Id:
rs140967767
ExAC:
1:171605246 G / A
gnomAD v2:
1-171605246-G-A
gnomAD v3:
1-171636106-G-A
gnomAD v4:
1-171636106-G-A
ERepo:
CA1244040/MONDO:0007665/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636106G>A , CM000663.2:g.171636106G>A | GRCh38 |
| NC_000001.10:g.171605246G>A , CM000663.1:g.171605246G>A | GRCh37 |
| NC_000001.9:g.169871869G>A | NCBI36 |
| NG_008859.1:g.21528C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1334C>T (MYOC) MANE Select | ENSP00000037502.5:p.Ala445Val | |
| ENST00000637303.1:c.235-2524G>A (MYOCOS) | ENSP00000490048.1:n.235-2524G>A | |
| ENST00000638471.1:c.*672C>T (MYOC) | ENSP00000491206.1:n.*672C>T | |
| ENST00000037502.10:c.1334C>T (MYOC) | ENSP00000037502.5:p.Ala445Val | |
| ENST00000614688.1:c.*298C>T (MYOC) | ENSP00000478680.1:n.*298C>T | |
| NM_000261.1:c.1334C>T (MYOC) | NP_000252.1:p.Ala445Val | |
| NM_000261.2:c.1334C>T (MYOC) MANE Select | NP_000252.1:p.Ala445Val |