Linked Data
ClinVar Variation Id:
181393
ClinVar RCV Id:
RCV000158869
RCV000799550
RCV001176078
RCV001293063
RCV002498790
RCV002336365
RCV004528899
dbSNP Id:
rs730880914
ExAC:
14:23884965 C / T
gnomAD v2:
14-23884965-C-T
gnomAD v3:
14-23415756-C-T
gnomAD v4:
14-23415756-C-T
COSMIC:
COSM245863
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23415756C>T , CM000676.2:g.23415756C>T | GRCh38 |
| NC_000014.8:g.23884965C>T , CM000676.1:g.23884965C>T | GRCh37 |
| NC_000014.7:g.22954805C>T | NCBI36 |
| NG_007884.1:g.24906G>A , LRG_384:g.24906G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.5030G>A (MYH7) MANE Select | ENSP00000347507.3:p.Arg1677His | |
| ENST00000355349.3:c.5030G>A (MYH7) | ENSP00000347507.3:p.Arg1677His | |
| NM_000257.3:c.5030G>A (MYH7) | NP_000248.2:p.Arg1677His | |
| NR_126491.1:n.188C>T (MHRT) | ||
| XM_017021340.1:c.5030G>A (MYH7) | XP_016876829.1:p.Arg1677His | |
| NM_000257.4:c.5030G>A (MYH7) MANE Select | NP_000248.2:p.Arg1677His |