Linked Data
ClinVar Variation Id:
327014
dbSNP Id:
rs488890
ExAC:
18:47375932 C / G
gnomAD v2:
18-47375932-C-G
gnomAD v3:
18-49849562-C-G
gnomAD v4:
18-49849562-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49849562C>G , CM000680.2:g.49849562C>G | GRCh38 |
| NC_000018.9:g.47375932C>G , CM000680.1:g.47375932C>G | GRCh37 |
| NC_000018.8:g.45629930C>G | NCBI36 |
| NG_012925.1:g.350520G>C | |
| NG_012925.2:g.350520G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697217.1:c.679+5G>C (MYO5B) | ENSP00000513187.1:n.679+5G>C | |
| ENST00000697218.1:n.1219+5G>C (MYO5B) | ||
| ENST00000697219.1:c.4049+5G>C (MYO5B) | ||
| ENST00000697220.1:n.439+5G>C (MYO5B) | ||
| ENST00000285039.12:c.4315+5G>C (MYO5B) MANE Select | ENSP00000285039.6:n.4315+5G>C | |
| ENST00000285039.11:c.4315+5G>C (MYO5B) | ENSP00000285039.6:n.4315+5G>C | |
| ENST00000324581.10:c.1666+5G>C (MYO5B) | ENSP00000315531.7:n.1666+5G>C | |
| ENST00000592688.1:c.25+5G>C (MYO5B) | ENSP00000466368.1:n.25+5G>C | |
| ENST00000616031.4:c.1907-12829G>C (MYO5B) | ENSP00000479038.1:n.1907-12829G>C | |
| NM_001080467.2:c.4315+5G>C (MYO5B) | NP_001073936.1:n.4315+5G>C | |
| NR_117096.1:n.193-75C>G (SNHG22) | ||
| NM_001080467.3:c.4315+5G>C (MYO5B) MANE Select | NP_001073936.1:n.4315+5G>C |