Linked Data
gnomAD v4:
1-171635723-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171635723T>A , CM000663.2:g.171635723T>A | GRCh38 |
| NC_000001.10:g.171604863T>A , CM000663.1:g.171604863T>A | GRCh37 |
| NC_000001.9:g.169871486T>A | NCBI36 |
| NG_008859.1:g.21911A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.*202A>T (MYOC) MANE Select | ENSP00000037502.5:n.*202A>T | |
| ENST00000637303.1:c.235-2907T>A (MYOCOS) | ENSP00000490048.1:n.235-2907T>A | |
| ENST00000638471.1:c.*1055A>T (MYOC) | ENSP00000491206.1:n.*1055A>T | |
| ENST00000037502.10:c.*202A>T (MYOC) | ENSP00000037502.5:n.*202A>T | |
| ENST00000614688.1:c.*681A>T (MYOC) | ENSP00000478680.1:n.*681A>T | |
| NM_000261.1:c.*202A>T (MYOC) | NP_000252.1:n.*202A>T | |
| NM_000261.2:c.*202A>T (MYOC) MANE Select | NP_000252.1:n.*202A>T |