Linked Data
ClinVar Variation Id:
1460137
ClinVar RCV Id:
RCV001982988
dbSNP Id:
rs1892193216
gnomAD v4:
14-23416091-G-T
MyVariant Identifiers:
chr14:g.23885300G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23416091G>T , CM000676.2:g.23416091G>T | GRCh38 |
| NC_000014.8:g.23885300G>T , CM000676.1:g.23885300G>T | GRCh37 |
| NC_000014.7:g.22955140G>T | NCBI36 |
| NG_007884.1:g.24571C>A , LRG_384:g.24571C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4866C>A (MYH7) MANE Select | ENSP00000347507.3:p.Leu1622= | |
| ENST00000355349.3:c.4866C>A (MYH7) | ENSP00000347507.3:p.Leu1622= | |
| NM_000257.3:c.4866C>A (MYH7) | NP_000248.2:p.Leu1622= | |
| NR_126491.1:n.352G>T (MHRT) | ||
| XM_017021340.1:c.4866C>A (MYH7) | XP_016876829.1:p.Leu1622= | |
| NM_000257.4:c.4866C>A (MYH7) MANE Select | NP_000248.2:p.Leu1622= |