Linked Data
ClinVar Variation Id:
326947
ClinVar RCV Id:
RCV000284538
dbSNP Id:
rs886053857
gnomAD v3:
18-49824212-C-T
gnomAD v4:
18-49824212-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49824212C>T , CM000680.2:g.49824212C>T | GRCh38 |
| NC_000018.9:g.47350582C>T , CM000680.1:g.47350582C>T | GRCh37 |
| NC_000018.8:g.45604580C>T | NCBI36 |
| NG_012925.1:g.375870G>A | |
| NG_012925.2:g.375870G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697217.1:c.4170G>A (MYO5B) | ENSP00000513187.1:n.4170G>A | |
| ENST00000697218.1:n.4710G>A (MYO5B) | ||
| ENST00000697219.1:c.7540G>A (MYO5B) | ||
| ENST00000285039.12:c.*2259G>A (MYO5B) MANE Select | ENSP00000285039.6:n.*2259G>A | |
| ENST00000285039.11:c.*2259G>A (MYO5B) | ENSP00000285039.6:n.*2259G>A | |
| ENST00000590532.2:c.551+2224G>A | ENSP00000467396.2:n.551+2224G>A | |
| NM_001080467.2:c.*2259G>A (MYO5B) | NP_001073936.1:n.*2259G>A | |
| NR_117096.1:n.40+10150C>T (SNHG22) | ||
| NM_001080467.3:c.*2259G>A (MYO5B) MANE Select | NP_001073936.1:n.*2259G>A |