Linked Data
ClinVar Variation Id:
3073075
ClinVar RCV Id:
RCV004015089
dbSNP Id:
rs1488630967
gnomAD v2:
14-23886391-G-T
gnomAD v3:
14-23417182-G-T
gnomAD v4:
14-23417182-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23417182G>T , CM000676.2:g.23417182G>T | GRCh38 |
| NC_000014.8:g.23886391G>T , CM000676.1:g.23886391G>T | GRCh37 |
| NC_000014.7:g.22956231G>T | NCBI36 |
| NG_007884.1:g.23480C>A , LRG_384:g.23480C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4490C>A (MYH7) MANE Select | ENSP00000347507.3:p.Thr1497Asn | |
| ENST00000355349.3:c.4490C>A (MYH7) | ENSP00000347507.3:p.Thr1497Asn | |
| NM_000257.3:c.4490C>A (MYH7) | NP_000248.2:p.Thr1497Asn | |
| NR_126491.1:n.652-30G>T (MHRT) | ||
| XM_017021340.1:c.4490C>A (MYH7) | XP_016876829.1:p.Thr1497Asn | |
| NM_000257.4:c.4490C>A (MYH7) MANE Select | NP_000248.2:p.Thr1497Asn |