Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10409164T>A , CM000679.2:g.10409164T>A | GRCh38 |
| NC_000017.10:g.10312481T>A , CM000679.1:g.10312481T>A | GRCh37 |
| NC_000017.9:g.10253206T>A | NCBI36 |
| NG_013015.1:g.17787A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403437.2:c.1898A>T (MYH8) MANE Select | ENSP00000384330.2:p.Asp633Val | |
| NM_002472.2:c.1898A>T (MYH8) | NP_002463.2:p.Asp633Val | |
| NR_125367.1:n.167+2926T>A (MYHAS) | ||
| XM_011523873.1:c.1898A>T (MYH8) | XP_011522175.1:p.Asp633Val | |
| XM_011523874.1:c.1898A>T (MYH8) | XP_011522176.1:p.Asp633Val | |
| NM_002472.3:c.1898A>T (MYH8) MANE Select | NP_002463.2:p.Asp633Val |