Linked Data
ClinVar Variation Id:
326931
ClinVar RCV Id:
RCV000359212
dbSNP Id:
rs73959716
gnomAD v2:
18-47349768-A-C
gnomAD v3:
18-49823398-A-C
gnomAD v4:
18-49823398-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49823398A>C , CM000680.2:g.49823398A>C | GRCh38 |
| NC_000018.9:g.47349768A>C , CM000680.1:g.47349768A>C | GRCh37 |
| NC_000018.8:g.45603766A>C | NCBI36 |
| NG_012925.1:g.376684T>G | |
| NG_012925.2:g.376684T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697217.1:c.4984T>G (MYO5B) | ENSP00000513187.1:n.4984T>G | |
| ENST00000697218.1:n.5524T>G (MYO5B) | ||
| ENST00000697219.1:c.8354T>G (MYO5B) | ||
| ENST00000285039.12:c.*3073T>G (MYO5B) MANE Select | ENSP00000285039.6:n.*3073T>G | |
| ENST00000285039.11:c.*3073T>G (MYO5B) | ENSP00000285039.6:n.*3073T>G | |
| ENST00000590532.2:c.551+3038T>G | ENSP00000467396.2:n.551+3038T>G | |
| NM_001080467.2:c.*3073T>G (MYO5B) | NP_001073936.1:n.*3073T>G | |
| NR_117096.1:n.40+9336A>C (SNHG22) | ||
| NM_001080467.3:c.*3073T>G (MYO5B) MANE Select | NP_001073936.1:n.*3073T>G |