Linked Data
ClinVar Variation Id:
312892
ClinVar RCV Id:
RCV000259550
RCV000317103
RCV000361426
RCV000374287
RCV001177405
RCV001223055
RCV002338895
RCV002480129
RCV003320153
dbSNP Id:
rs753115999
ExAC:
14:23884969 G / A
gnomAD v2:
14-23884969-G-A
gnomAD v3:
14-23415760-G-A
gnomAD v4:
14-23415760-G-A
COSMIC:
COSM1258461
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23415760G>A , CM000676.2:g.23415760G>A | GRCh38 |
| NC_000014.8:g.23884969G>A , CM000676.1:g.23884969G>A | GRCh37 |
| NC_000014.7:g.22954809G>A | NCBI36 |
| NG_007884.1:g.24902C>T , LRG_384:g.24902C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.5026C>T (MYH7) MANE Select | ENSP00000347507.3:p.Arg1676Trp | |
| ENST00000355349.3:c.5026C>T (MYH7) | ENSP00000347507.3:p.Arg1676Trp | |
| NM_000257.3:c.5026C>T (MYH7) | NP_000248.2:p.Arg1676Trp | |
| NR_126491.1:n.192G>A (MHRT) | ||
| XM_017021340.1:c.5026C>T (MYH7) | XP_016876829.1:p.Arg1676Trp | |
| NM_000257.4:c.5026C>T (MYH7) MANE Select | NP_000248.2:p.Arg1676Trp |