Linked Data
ClinVar Variation Id:
1016191
dbSNP Id:
rs752021154
ExAC:
14:23884963 T / G
gnomAD v2:
14-23884963-T-G
gnomAD v3:
14-23415754-T-G
gnomAD v4:
14-23415754-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23415754T>G , CM000676.2:g.23415754T>G | GRCh38 |
| NC_000014.8:g.23884963T>G , CM000676.1:g.23884963T>G | GRCh37 |
| NC_000014.7:g.22954803T>G | NCBI36 |
| NG_007884.1:g.24908A>C , LRG_384:g.24908A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.5032A>C (MYH7) MANE Select | ENSP00000347507.3:p.Asn1678His | |
| ENST00000355349.3:c.5032A>C (MYH7) | ENSP00000347507.3:p.Asn1678His | |
| NM_000257.3:c.5032A>C (MYH7) | NP_000248.2:p.Asn1678His | |
| NR_126491.1:n.186T>G (MHRT) | ||
| XM_017021340.1:c.5032A>C (MYH7) | XP_016876829.1:p.Asn1678His | |
| NM_000257.4:c.5032A>C (MYH7) MANE Select | NP_000248.2:p.Asn1678His |