Linked Data
ClinVar Variation Id:
2442285
ClinVar RCV Id:
RCV003148614
gnomAD v4:
1-171638673-C-T
MyVariant Identifiers:
chr1:g.171607813C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171638673C>T , CM000663.2:g.171638673C>T | GRCh38 |
| NC_000001.10:g.171607813C>T , CM000663.1:g.171607813C>T | GRCh37 |
| NC_000001.9:g.169874436C>T | NCBI36 |
| NG_008859.1:g.18961G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.654G>A (MYOC) MANE Select | ENSP00000037502.5:p.Glu218= | |
| ENST00000637303.1:c.278C>T (MYOCOS) | ENSP00000490048.1:p.Ala93Val | |
| ENST00000638471.1:c.184G>A (MYOC) | ENSP00000491206.1:p.Ala62Thr | |
| ENST00000037502.10:c.654G>A (MYOC) | ENSP00000037502.5:p.Glu218= | |
| ENST00000614688.1:c.654G>A (MYOC) | ENSP00000478680.1:p.Glu218= | |
| NM_000261.1:c.654G>A (MYOC) | NP_000252.1:p.Glu218= | |
| NM_000261.2:c.654G>A (MYOC) MANE Select | NP_000252.1:p.Glu218= |