Linked Data
ClinVar Variation Id:
43048
dbSNP Id:
rs374289523
ExAC:
14:23885021 G / A
gnomAD v2:
14-23885021-G-A
gnomAD v3:
14-23415812-G-A
gnomAD v4:
14-23415812-G-A
COSMIC:
COSM954743
PubMed:
PMID:29300372
ERepo:
CA015510/MONDO:0004994/002
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23415812G>A , CM000676.2:g.23415812G>A | GRCh38 |
| NC_000014.8:g.23885021G>A , CM000676.1:g.23885021G>A | GRCh37 |
| NC_000014.7:g.22954861G>A | NCBI36 |
| NG_007884.1:g.24850C>T , LRG_384:g.24850C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4974C>T (MYH7) MANE Select | ENSP00000347507.3:p.Asp1658= | |
| ENST00000355349.3:c.4974C>T (MYH7) | ENSP00000347507.3:p.Asp1658= | |
| NM_000257.3:c.4974C>T (MYH7) | NP_000248.2:p.Asp1658= | |
| NR_126491.1:n.244G>A (MHRT) | ||
| XM_017021340.1:c.4974C>T (MYH7) | XP_016876829.1:p.Asp1658= | |
| NM_000257.4:c.4974C>T (MYH7) MANE Select | NP_000248.2:p.Asp1658= |