Linked Data
ClinVar Variation Id:
1743888
ClinVar RCV Id:
RCV002340573
dbSNP Id:
rs979509908
gnomAD v3:
14-23416058-G-T
gnomAD v4:
14-23416058-G-T
COSMIC:
COSM5043275
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23416058G>T , CM000676.2:g.23416058G>T | GRCh38 |
| NC_000014.8:g.23885267G>T , CM000676.1:g.23885267G>T | GRCh37 |
| NC_000014.7:g.22955107G>T | NCBI36 |
| NG_007884.1:g.24604C>A , LRG_384:g.24604C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4899C>A (MYH7) MANE Select | ENSP00000347507.3:p.Asn1633Lys | |
| ENST00000355349.3:c.4899C>A (MYH7) | ENSP00000347507.3:p.Asn1633Lys | |
| NM_000257.3:c.4899C>A (MYH7) | NP_000248.2:p.Asn1633Lys | |
| NR_126491.1:n.319G>T (MHRT) | ||
| XM_017021340.1:c.4899C>A (MYH7) | XP_016876829.1:p.Asn1633Lys | |
| NM_000257.4:c.4899C>A (MYH7) MANE Select | NP_000248.2:p.Asn1633Lys |