Linked Data
ClinVar Variation Id:
318083
dbSNP Id:
rs558010405
gnomAD v2:
16-15797620-A-G
gnomAD v3:
16-15703763-A-G
gnomAD v4:
16-15703763-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.15703763A>G , CM000678.2:g.15703763A>G | GRCh38 |
| NC_000016.9:g.15797620A>G , CM000678.1:g.15797620A>G | GRCh37 |
| NC_000016.8:g.15705121A>G | NCBI36 |
| NG_009299.1:g.158268T>C | |
| NG_021210.1:g.65497A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300036.6:c.*228T>C (MYH11) MANE Select | ENSP00000300036.5:n.*228T>C | |
| ENST00000396354.6:c.947+6903A>G (NDE1) MANE Select | ENSP00000379642.1:n.947+6903A>G | |
| ENST00000452625.7:c.*369T>C (MYH11) MANE Plus Clinical | ENSP00000407821.2:n.*369T>C | |
| ENST00000572756.6:c.795+9507A>G (NDE1) | ENSP00000460436.2:n.795+9507A>G | |
| ENST00000577101.6:c.1030+6903A>G (NDE1) | ENSP00000461729.2:n.1030+6903A>G | |
| ENST00000674538.1:c.795+9507A>G (NDE1) | ENSP00000501547.1:n.795+9507A>G | |
| ENST00000674554.1:c.947+6903A>G (NDE1) | ENSP00000502635.1:n.947+6903A>G | |
| ENST00000674581.1:c.*6+6903A>G (NDE1) | ENSP00000502100.1:n.*6+6903A>G | |
| ENST00000674588.1:c.795+9507A>G (NDE1) | ENSP00000502802.1:n.795+9507A>G | |
| ENST00000674888.1:c.947+6903A>G (NDE1) | ENSP00000501936.1:n.947+6903A>G | |
| ENST00000674900.1:c.*348+6903A>G (NDE1) | ENSP00000502662.1:n.*348+6903A>G | |
| ENST00000674995.1:c.795+9507A>G (NDE1) | ENSP00000502414.1:n.795+9507A>G | |
| ENST00000675171.1:c.*699+6903A>G (NDE1) | ENSP00000501812.1:n.*699+6903A>G | |
| ENST00000675926.1:c.947+6903A>G (NDE1) | ENSP00000502354.1:n.947+6903A>G | |
| ENST00000675951.1:c.947+6903A>G (NDE1) | ENSP00000502160.1:n.947+6903A>G | |
| ENST00000342673.9:c.947+6903A>G (NDE1) | ENSP00000345892.5:n.947+6903A>G | |
| ENST00000396324.7:c.*228T>C (MYH11) | ENSP00000379616.3:n.*228T>C | |
| ENST00000396354.5:c.947+6903A>G (NDE1) | ENSP00000379642.1:n.947+6903A>G | |
| ENST00000396355.5:c.947+6903A>G (NDE1) | ENSP00000379643.1:n.947+6903A>G | |
| ENST00000452625.6:c.*369T>C (MYH11) | ENSP00000407821.2:n.*369T>C | |
| ENST00000572967.1:c.452+3909A>G (NDE1) | ENSP00000459918.1:n.452+3909A>G | |
| ENST00000573694.5:c.379+3909A>G (NDE1) | ||
| ENST00000573908.1:n.519T>C (MYH11) | ||
| ENST00000616439.4:c.*116T>C (MYH11) | ENSP00000484924.1:n.*116T>C | |
| NM_001040113.1:c.*369T>C (MYH11) | NP_001035202.1:n.*369T>C | |
| NM_001040114.1:c.*228T>C (MYH11) | NP_001035203.1:n.*228T>C | |
| NM_001143979.1:c.947+6903A>G (NDE1) | NP_001137451.1:n.947+6903A>G | |
| NM_002474.2:c.*228T>C (MYH11) | NP_002465.1:n.*228T>C | |
| NM_017668.2:c.947+6903A>G (NDE1) | NP_060138.1:n.947+6903A>G | |
| NM_022844.2:c.*369T>C (MYH11) | NP_074035.1:n.*369T>C | |
| NM_002474.3:c.*228T>C (MYH11) MANE Select | NP_002465.1:n.*228T>C | |
| NM_017668.3:c.947+6903A>G (NDE1) MANE Select | NP_060138.1:n.947+6903A>G | |
| NM_001040113.2:c.*369T>C (MYH11) MANE Plus Clinical | NP_001035202.1:n.*369T>C | |
| NM_001143979.2:c.947+6903A>G (NDE1) | NP_001137451.1:n.947+6903A>G | |
| NM_001040114.2:c.*228T>C (MYH11) | NP_001035203.1:n.*228T>C | |
| NM_022844.3:c.*369T>C (MYH11) | NP_074035.1:n.*369T>C |