Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10398580C>T , CM000679.2:g.10398580C>T | GRCh38 |
| NC_000017.10:g.10301897C>T , CM000679.1:g.10301897C>T | GRCh37 |
| NC_000017.9:g.10242622C>T | NCBI36 |
| NG_013015.1:g.28371G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403437.2:c.4042G>A (MYH8) MANE Select | ENSP00000384330.2:p.Glu1348Lys | |
| NM_002472.2:c.4042G>A (MYH8) | NP_002463.2:p.Glu1348Lys | |
| NR_125367.1:n.77-7568C>T (MYHAS) | ||
| XM_011523873.1:c.4138G>A (MYH8) | XP_011522175.1:p.Glu1380Lys | |
| XM_011523874.1:c.4138G>A (MYH8) | XP_011522176.1:p.Glu1380Lys | |
| NM_002472.3:c.4042G>A (MYH8) MANE Select | NP_002463.2:p.Glu1348Lys |