Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10392597T>G , CM000679.2:g.10392597T>G | GRCh38 |
| NC_000017.10:g.10295914T>G , CM000679.1:g.10295914T>G | GRCh37 |
| NC_000017.9:g.10236639T>G | NCBI36 |
| NG_013015.1:g.34354A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002472.3:c.5513A>C (MYH8) MANE Select | NP_002463.2:p.Glu1838Ala |
| ENST00000403437.2:c.5513A>C (MYH8) MANE Select | ENSP00000384330.2:p.Glu1838Ala |
| NM_002472.2:c.5513A>C (MYH8) | NP_002463.2:p.Glu1838Ala |
| NR_125367.1:n.76+9390T>G (MYHAS) | |
| XM_011523873.1:c.5609A>C (MYH8) | XP_011522175.1:p.Glu1870Ala |
| XM_011523874.1:c.5609A>C (MYH8) | XP_011522176.1:p.Glu1870Ala |