Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10396334G>C , CM000679.2:g.10396334G>C | GRCh38 |
| NC_000017.10:g.10299651G>C , CM000679.1:g.10299651G>C | GRCh37 |
| NC_000017.9:g.10240376G>C | NCBI36 |
| NG_013015.1:g.30617C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403437.2:c.4649C>G (MYH8) MANE Select | ENSP00000384330.2:p.Ala1550Gly | |
| NM_002472.2:c.4649C>G (MYH8) | NP_002463.2:p.Ala1550Gly | |
| NR_125367.1:n.77-9814G>C (MYHAS) | ||
| XM_011523873.1:c.4745C>G (MYH8) | XP_011522175.1:p.Ala1582Gly | |
| XM_011523874.1:c.4745C>G (MYH8) | XP_011522176.1:p.Ala1582Gly | |
| NM_002472.3:c.4649C>G (MYH8) MANE Select | NP_002463.2:p.Ala1550Gly |