Linked Data
ClinVar Variation Id:
852384
ClinVar RCV Id:
RCV001056980
dbSNP Id:
rs143471552
ExAC:
14:23885510 C / A
gnomAD v2:
14-23885510-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23416301C>A , CM000676.2:g.23416301C>A | GRCh38 |
| NC_000014.8:g.23885510C>A , CM000676.1:g.23885510C>A | GRCh37 |
| NC_000014.7:g.22955350C>A | NCBI36 |
| NG_007884.1:g.24361G>T , LRG_384:g.24361G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4656G>T (MYH7) MANE Select | ENSP00000347507.3:p.Glu1552Asp | |
| ENST00000355349.3:c.4656G>T (MYH7) | ENSP00000347507.3:p.Glu1552Asp | |
| NM_000257.3:c.4656G>T (MYH7) | NP_000248.2:p.Glu1552Asp | |
| NR_126491.1:n.558+4C>A (MHRT) | ||
| XM_017021340.1:c.4656G>T (MYH7) | XP_016876829.1:p.Glu1552Asp | |
| NM_000257.4:c.4656G>T (MYH7) MANE Select | NP_000248.2:p.Glu1552Asp |