Linked Data
ClinVar Variation Id:
263349
ClinVar RCV Id:
RCV000248788
dbSNP Id:
rs778233579
ExAC:
14:23886724 C / T
gnomAD v2:
14-23886724-C-T
gnomAD v4:
14-23417515-C-T
COSMIC:
COSM2031779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23417515C>T , CM000676.2:g.23417515C>T | GRCh38 |
| NC_000014.8:g.23886724C>T , CM000676.1:g.23886724C>T | GRCh37 |
| NC_000014.7:g.22956564C>T | NCBI36 |
| NG_007884.1:g.23147G>A , LRG_384:g.23147G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4341G>A (MYH7) MANE Select | ENSP00000347507.3:p.Arg1447= | |
| ENST00000355349.3:c.4341G>A (MYH7) | ENSP00000347507.3:p.Arg1447= | |
| NM_000257.3:c.4341G>A (MYH7) | NP_000248.2:p.Arg1447= | |
| NR_126491.1:n.814-18C>T (MHRT) | ||
| XM_017021340.1:c.4341G>A (MYH7) | XP_016876829.1:p.Arg1447= | |
| NM_000257.4:c.4341G>A (MYH7) MANE Select | NP_000248.2:p.Arg1447= |