Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10404276T>A , CM000679.2:g.10404276T>A | GRCh38 |
| NC_000017.10:g.10307593T>A , CM000679.1:g.10307593T>A | GRCh37 |
| NC_000017.9:g.10248318T>A | NCBI36 |
| NG_013015.1:g.22675A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403437.2:c.2688+54A>T (MYH8) MANE Select | ENSP00000384330.2:n.2688+54A>T | |
| NM_002472.2:c.2688+54A>T (MYH8) | NP_002463.2:n.2688+54A>T | |
| NR_125367.1:n.77-1872T>A (MYHAS) | ||
| XM_011523873.1:c.2784+54A>T (MYH8) | XP_011522175.1:n.2784+54A>T | |
| XM_011523874.1:c.2784+54A>T (MYH8) | XP_011522176.1:n.2784+54A>T | |
| NM_002472.3:c.2688+54A>T (MYH8) MANE Select | NP_002463.2:n.2688+54A>T |