Linked Data
gnomAD v4:
1-171636460-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636460G>T , CM000663.2:g.171636460G>T | GRCh38 |
| NC_000001.10:g.171605600G>T , CM000663.1:g.171605600G>T | GRCh37 |
| NC_000001.9:g.169872223G>T | NCBI36 |
| NG_008859.1:g.21174C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.980C>A (MYOC) MANE Select | ENSP00000037502.5:p.Ala327Asp | |
| ENST00000637303.1:c.235-2170G>T (MYOCOS) | ENSP00000490048.1:n.235-2170G>T | |
| ENST00000638471.1:c.*318C>A (MYOC) | ENSP00000491206.1:n.*318C>A | |
| ENST00000037502.10:c.980C>A (MYOC) | ENSP00000037502.5:p.Ala327Asp | |
| ENST00000614688.1:c.980C>A (MYOC) | ENSP00000478680.1:p.Ala327Asp | |
| NM_000261.1:c.980C>A (MYOC) | NP_000252.1:p.Ala327Asp | |
| NM_000261.2:c.980C>A (MYOC) MANE Select | NP_000252.1:p.Ala327Asp |