Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10396648C>T , CM000679.2:g.10396648C>T | GRCh38 |
| NC_000017.10:g.10299965C>T , CM000679.1:g.10299965C>T | GRCh37 |
| NC_000017.9:g.10240690C>T | NCBI36 |
| NG_013015.1:g.30303G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002472.3:c.4433G>A (MYH8) MANE Select | NP_002463.2:p.Arg1478His |
| ENST00000403437.2:c.4433G>A (MYH8) MANE Select | ENSP00000384330.2:p.Arg1478His |
| NM_002472.2:c.4433G>A (MYH8) | NP_002463.2:p.Arg1478His |
| NR_125367.1:n.77-9500C>T (MYHAS) | |
| XM_011523873.1:c.4529G>A (MYH8) | XP_011522175.1:p.Arg1510His |
| XM_011523874.1:c.4529G>A (MYH8) | XP_011522176.1:p.Arg1510His |