Linked Data
ClinVar Variation Id:
927214
dbSNP Id:
rs780625785
ExAC:
14:23886764 C / T
gnomAD v2:
14-23886764-C-T
gnomAD v3:
14-23417555-C-T
gnomAD v4:
14-23417555-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23417555C>T , CM000676.2:g.23417555C>T | GRCh38 |
| NC_000014.8:g.23886764C>T , CM000676.1:g.23886764C>T | GRCh37 |
| NC_000014.7:g.22956604C>T | NCBI36 |
| NG_007884.1:g.23107G>A , LRG_384:g.23107G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4301G>A (MYH7) MANE Select | ENSP00000347507.3:p.Arg1434His | |
| ENST00000355349.3:c.4301G>A (MYH7) | ENSP00000347507.3:p.Arg1434His | |
| NM_000257.3:c.4301G>A (MYH7) | NP_000248.2:p.Arg1434His | |
| NR_126491.1:n.836C>T (MHRT) | ||
| XM_017021340.1:c.4301G>A (MYH7) | XP_016876829.1:p.Arg1434His | |
| NM_000257.4:c.4301G>A (MYH7) MANE Select | NP_000248.2:p.Arg1434His |