Linked Data
ClinVar Variation Id:
181252
ClinVar RCV Id:
RCV000158649
dbSNP Id:
rs730880798
COSMIC:
COSM5581777
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23417586C>T , CM000676.2:g.23417586C>T | GRCh38 |
| NC_000014.8:g.23886795C>T , CM000676.1:g.23886795C>T | GRCh37 |
| NC_000014.7:g.22956635C>T | NCBI36 |
| NG_007884.1:g.23076G>A , LRG_384:g.23076G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355349.4:c.4270G>A (MYH7) MANE Select | ENSP00000347507.3:p.Glu1424Lys | |
| ENST00000355349.3:c.4270G>A (MYH7) | ENSP00000347507.3:p.Glu1424Lys | |
| NM_000257.3:c.4270G>A (MYH7) | NP_000248.2:p.Glu1424Lys | |
| NR_126491.1:n.867C>T (MHRT) | ||
| XM_017021340.1:c.4270G>A (MYH7) | XP_016876829.1:p.Glu1424Lys | |
| NM_000257.4:c.4270G>A (MYH7) MANE Select | NP_000248.2:p.Glu1424Lys |