Linked Data
ClinVar Variation Id:
2429765
ClinVar RCV Id:
RCV003127218
dbSNP Id:
rs1437593676
gnomAD v4:
1-171636572-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636572T>C , CM000663.2:g.171636572T>C | GRCh38 |
| NC_000001.10:g.171605712T>C , CM000663.1:g.171605712T>C | GRCh37 |
| NC_000001.9:g.169872335T>C | NCBI36 |
| NG_008859.1:g.21062A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.868A>G (MYOC) MANE Select | ENSP00000037502.5:p.Thr290Ala | |
| ENST00000637303.1:c.235-2058T>C (MYOCOS) | ENSP00000490048.1:n.235-2058T>C | |
| ENST00000638471.1:c.*206A>G (MYOC) | ENSP00000491206.1:n.*206A>G | |
| ENST00000037502.10:c.868A>G (MYOC) | ENSP00000037502.5:p.Thr290Ala | |
| ENST00000614688.1:c.868A>G (MYOC) | ENSP00000478680.1:p.Thr290Ala | |
| NM_000261.1:c.868A>G (MYOC) | NP_000252.1:p.Thr290Ala | |
| NM_000261.2:c.868A>G (MYOC) MANE Select | NP_000252.1:p.Thr290Ala |