Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10410828C>G , CM000679.2:g.10410828C>G | GRCh38 |
| NC_000017.10:g.10314145C>G , CM000679.1:g.10314145C>G | GRCh37 |
| NC_000017.9:g.10254870C>G | NCBI36 |
| NG_013015.1:g.16123G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002472.3:c.1536G>C (MYH8) MANE Select | NP_002463.2:p.Thr512= |
| ENST00000403437.2:c.1536G>C (MYH8) MANE Select | ENSP00000384330.2:p.Thr512= |
| NM_002472.2:c.1536G>C (MYH8) | NP_002463.2:p.Thr512= |
| NR_125367.1:n.167+4590C>G (MYHAS) | |
| XM_011523873.1:c.1536G>C (MYH8) | XP_011522175.1:p.Thr512= |
| XM_011523874.1:c.1536G>C (MYH8) | XP_011522176.1:p.Thr512= |