Linked Data
ClinVar Variation Id:
326920
ClinVar RCV Id:
RCV000382656
dbSNP Id:
rs9947614
gnomAD v2:
18-47349473-C-G
gnomAD v3:
18-49823103-C-G
gnomAD v4:
18-49823103-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49823103C>G , CM000680.2:g.49823103C>G | GRCh38 |
| NC_000018.9:g.47349473C>G , CM000680.1:g.47349473C>G | GRCh37 |
| NC_000018.8:g.45603471C>G | NCBI36 |
| NG_012925.1:g.376979G>C | |
| NG_012925.2:g.376979G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697217.1:c.5279G>C (MYO5B) | ENSP00000513187.1:n.5279G>C | |
| ENST00000697218.1:n.5819G>C (MYO5B) | ||
| ENST00000697219.1:c.8649G>C (MYO5B) | ||
| ENST00000285039.12:c.*3368G>C (MYO5B) MANE Select | ENSP00000285039.6:n.*3368G>C | |
| ENST00000285039.11:c.*3368G>C (MYO5B) | ENSP00000285039.6:n.*3368G>C | |
| ENST00000590532.2:c.551+3333G>C | ENSP00000467396.2:n.551+3333G>C | |
| NM_001080467.2:c.*3368G>C (MYO5B) | NP_001073936.1:n.*3368G>C | |
| NR_117096.1:n.40+9041C>G (SNHG22) | ||
| NM_001080467.3:c.*3368G>C (MYO5B) MANE Select | NP_001073936.1:n.*3368G>C |