Linked Data
dbSNP Id:
rs769011297
ExAC:
1:171605593 C / T
gnomAD v2:
1-171605593-C-T
gnomAD v3:
1-171636453-C-T
gnomAD v4:
1-171636453-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636453C>T , CM000663.2:g.171636453C>T | GRCh38 |
| NC_000001.10:g.171605593C>T , CM000663.1:g.171605593C>T | GRCh37 |
| NC_000001.9:g.169872216C>T | NCBI36 |
| NG_008859.1:g.21181G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.987G>A (MYOC) MANE Select | ENSP00000037502.5:p.Val329= | |
| ENST00000637303.1:c.235-2177C>T (MYOCOS) | ENSP00000490048.1:n.235-2177C>T | |
| ENST00000638471.1:c.*325G>A (MYOC) | ENSP00000491206.1:n.*325G>A | |
| ENST00000037502.10:c.987G>A (MYOC) | ENSP00000037502.5:p.Val329= | |
| ENST00000614688.1:c.987G>A (MYOC) | ENSP00000478680.1:p.Val329= | |
| NM_000261.1:c.987G>A (MYOC) | NP_000252.1:p.Val329= | |
| NM_000261.2:c.987G>A (MYOC) MANE Select | NP_000252.1:p.Val329= |