gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23418010T>G , CM000676.2:g.23418010T>G | GRCh38 |
| NC_000014.8:g.23887219T>G , CM000676.1:g.23887219T>G | GRCh37 |
| NC_000014.7:g.22957059T>G | NCBI36 |
| NG_007884.1:g.22652A>C , LRG_384:g.22652A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4169+200A>C (MYH7) MANE Select | ENSP00000347507.3:n.4169+200A>C | |
| ENST00000355349.3:c.4169+200A>C (MYH7) | ENSP00000347507.3:n.4169+200A>C | |
| NM_000257.3:c.4169+200A>C (MYH7) | NP_000248.2:n.4169+200A>C | |
| NR_030624.1:n.54A>C (MIR208B) | ||
| XM_017021340.1:c.4169+200A>C (MYH7) | XP_016876829.1:n.4169+200A>C | |
| NM_000257.4:c.4169+200A>C (MYH7) MANE Select | NP_000248.2:n.4169+200A>C |