Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10512523A>G , CM000679.2:g.10512523A>G | GRCh38 |
| NC_000017.10:g.10415840A>G , CM000679.1:g.10415840A>G | GRCh37 |
| NC_000017.9:g.10356565A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005963.4:c.1032T>C (MYH1) MANE Select | NP_005954.3:p.Phe344= |
| ENST00000226207.6:c.1032T>C (MYH1) MANE Select | ENSP00000226207.5:p.Phe344= |
| NM_005963.3:c.1032T>C (MYH1) | NP_005954.3:p.Phe344= |
| NR_125367.1:n.168-55014A>G (MYHAS) | |
| ENST00000226207.5:c.1032T>C (MYH1) | ENSP00000226207.5:p.Phe344= |
| XM_017024675.1:c.1032T>C (MYH1) | XP_016880164.1:p.Phe344= |