Linked Data
ClinVar Variation Id:
222729
ClinVar RCV Id:
RCV000208040
RCV000454653
RCV000811692
RCV000995144
RCV001183228
RCV003165509
RCV003417755
dbSNP Id:
rs750987717
ExAC:
14:23885449 C / T
gnomAD v2:
14-23885449-C-T
gnomAD v3:
14-23416240-C-T
gnomAD v4:
14-23416240-C-T
PubMed:
PMID:21127202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23416240C>T , CM000676.2:g.23416240C>T | GRCh38 |
| NC_000014.8:g.23885449C>T , CM000676.1:g.23885449C>T | GRCh37 |
| NC_000014.7:g.22955289C>T | NCBI36 |
| NG_007884.1:g.24422G>A , LRG_384:g.24422G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355349.4:c.4717G>A (MYH7) MANE Select | ENSP00000347507.3:p.Glu1573Lys | |
| ENST00000355349.3:c.4717G>A (MYH7) | ENSP00000347507.3:p.Glu1573Lys | |
| NM_000257.3:c.4717G>A (MYH7) | NP_000248.2:p.Glu1573Lys | |
| NR_126491.1:n.501C>T (MHRT) | ||
| XM_017021340.1:c.4717G>A (MYH7) | XP_016876829.1:p.Glu1573Lys | |
| NM_000257.4:c.4717G>A (MYH7) MANE Select | NP_000248.2:p.Glu1573Lys |