COSMIC:
COSN8868602 (not active)
COSN26728648 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32238004 (MID)
Genomes Max Group AF
0.2519588 (SAS)
Exomes Max Group AF
0.32147521 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34990448A>G , CM000682.2:g.34990448A>G | GRCh38 |
| NC_000020.10:g.33578251A>G , CM000682.1:g.33578251A>G | GRCh37 |
| NC_000020.9:g.33041912A>G | NCBI36 |
| NG_016984.2:g.39548A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262873.13:c.1977+138A>G (MYH7B) MANE Select | ENSP00000262873.8:n.1977+138A>G | |
| ENST00000262873.12:c.1977+138A>G (MYH7B) | ENSP00000262873.8:n.1977+138A>G | |
| ENST00000618182.6:c.2100+138A>G (MYH7B) | ENSP00000483640.3:n.2100+138A>G | |
| ENST00000262873.11:c.2103+138A>G (MYH7B) | ENSP00000262873.7:n.2103+138A>G | |
| ENST00000618182.4:c.2100+138A>G (MYH7B) | ENSP00000483640.1:n.2100+138A>G | |
| NM_020884.4:c.2103+138A>G (MYH7B) | NP_065935.3:n.2103+138A>G | |
| NR_030223.1:n.73A>G (MIR499A) | ||
| NR_039912.1:n.25T>C (MIR499B) | ||
| XM_006723840.2:c.2103+138A>G (MYH7B) | XP_006723903.1:n.2103+138A>G | |
| XM_011528941.1:c.2127+138A>G (MYH7B) | XP_011527243.1:n.2127+138A>G | |
| XM_011528942.1:c.2127+138A>G (MYH7B) | XP_011527244.1:n.2127+138A>G | |
| XM_011528943.1:c.2067+138A>G (MYH7B) | XP_011527245.1:n.2067+138A>G | |
| XM_011528944.1:c.2028+138A>G (MYH7B) | XP_011527246.1:n.2028+138A>G | |
| XM_011528945.1:c.1557+138A>G (MYH7B) | XP_011527247.1:n.1557+138A>G | |
| XM_011528946.1:c.1545+138A>G (MYH7B) | XP_011527248.1:n.1545+138A>G | |
| XM_011528947.1:c.1350+138A>G (MYH7B) | XP_011527249.1:n.1350+138A>G | |
| XM_011528948.1:c.1350+138A>G (MYH7B) | XP_011527250.1:n.1350+138A>G | |
| XM_011528950.1:c.2127+138A>G (MYH7B) | XP_011527252.1:n.2127+138A>G | |
| XM_006723840.3:c.2103+138A>G (MYH7B) | XP_006723903.1:n.2103+138A>G | |
| XM_011528941.2:c.2127+138A>G (MYH7B) | XP_011527243.1:n.2127+138A>G | |
| XM_011528947.2:c.1350+138A>G (MYH7B) | XP_011527249.1:n.1350+138A>G | |
| XM_011528948.2:c.1350+138A>G (MYH7B) | XP_011527250.1:n.1350+138A>G | |
| XM_017027986.1:c.2163+138A>G (MYH7B) | XP_016883475.1:n.2163+138A>G | |
| XR_001754582.1:n.94+472T>C | ||
| NM_020884.5:c.2103+138A>G (MYH7B) | NP_065935.3:n.2103+138A>G | |
| NM_020884.7:c.1977+138A>G (MYH7B) MANE Select | NP_065935.4:n.1977+138A>G |