Linked Data
ClinVar Variation Id:
190406
ClinVar RCV Id:
RCV000484676
dbSNP Id:
rs730880808
PubMed:
PMID:20301606
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23416185A>G , CM000676.2:g.23416185A>G | GRCh38 |
| NC_000014.8:g.23885394A>G , CM000676.1:g.23885394A>G | GRCh37 |
| NC_000014.7:g.22955234A>G | NCBI36 |
| NG_007884.1:g.24477T>C , LRG_384:g.24477T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4772T>C (MYH7) MANE Select | ENSP00000347507.3:p.Leu1591Pro | |
| ENST00000355349.3:c.4772T>C (MYH7) | ENSP00000347507.3:p.Leu1591Pro | |
| NM_000257.3:c.4772T>C (MYH7) | NP_000248.2:p.Leu1591Pro | |
| NR_126491.1:n.446A>G (MHRT) | ||
| XM_017021340.1:c.4772T>C (MYH7) | XP_016876829.1:p.Leu1591Pro | |
| NM_000257.4:c.4772T>C (MYH7) MANE Select | NP_000248.2:p.Leu1591Pro |