Linked Data
dbSNP Id:
rs375235405
gnomAD v3:
1-171636126-G-T
gnomAD v4:
1-171636126-G-T
MyVariant Identifiers:
chr1:g.171605266G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636126G>T , CM000663.2:g.171636126G>T | GRCh38 |
| NC_000001.10:g.171605266G>T , CM000663.1:g.171605266G>T | GRCh37 |
| NC_000001.9:g.169871889G>T | NCBI36 |
| NG_008859.1:g.21508C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1314C>A (MYOC) MANE Select | ENSP00000037502.5:p.Thr438= | |
| ENST00000637303.1:c.235-2504G>T (MYOCOS) | ENSP00000490048.1:n.235-2504G>T | |
| ENST00000638471.1:c.*652C>A (MYOC) | ENSP00000491206.1:n.*652C>A | |
| ENST00000037502.10:c.1314C>A (MYOC) | ENSP00000037502.5:p.Thr438= | |
| ENST00000614688.1:c.*278C>A (MYOC) | ENSP00000478680.1:n.*278C>A | |
| NM_000261.1:c.1314C>A (MYOC) | NP_000252.1:p.Thr438= | |
| NM_000261.2:c.1314C>A (MYOC) MANE Select | NP_000252.1:p.Thr438= |