Linked Data
dbSNP Id:
rs762398027
ExAC:
14:23884959 T / C
gnomAD v2:
14-23884959-T-C
gnomAD v4:
14-23415750-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23415750T>C , CM000676.2:g.23415750T>C | GRCh38 |
| NC_000014.8:g.23884959T>C , CM000676.1:g.23884959T>C | GRCh37 |
| NC_000014.7:g.22954799T>C | NCBI36 |
| NG_007884.1:g.24912A>G , LRG_384:g.24912A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.5036A>G (MYH7) MANE Select | ENSP00000347507.3:p.Asn1679Ser | |
| ENST00000355349.3:c.5036A>G (MYH7) | ENSP00000347507.3:p.Asn1679Ser | |
| NM_000257.3:c.5036A>G (MYH7) | NP_000248.2:p.Asn1679Ser | |
| NR_126491.1:n.182T>C (MHRT) | ||
| XM_017021340.1:c.5036A>G (MYH7) | XP_016876829.1:p.Asn1679Ser | |
| NM_000257.4:c.5036A>G (MYH7) MANE Select | NP_000248.2:p.Asn1679Ser |