Linked Data
ClinVar Variation Id:
138342
ClinVar RCV Id:
RCV000126950
RCV000250056
RCV000316233
RCV000609871
RCV000617695
RCV001116324
RCV001775610
RCV001775609
RCV001705917
dbSNP Id:
rs2075511
ExAC:
16:15818141 A / C
gnomAD v2:
16-15818141-A-C
gnomAD v3:
16-15724284-A-C
gnomAD v4:
16-15724284-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.15724284A>C , CM000678.2:g.15724284A>C | GRCh38 |
| NC_000016.9:g.15818141A>C , CM000678.1:g.15818141A>C | GRCh37 |
| NC_000016.8:g.15725642A>C | NCBI36 |
| NG_009299.1:g.137747T>G | |
| NG_021210.1:g.86018A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300036.6:c.4242T>G (MYH11) MANE Select | ENSP00000300036.5:p.Ala1414= | |
| ENST00000396354.6:c.*33A>C (NDE1) MANE Select | ENSP00000379642.1:n.*33A>C | |
| ENST00000452625.7:c.4263T>G (MYH11) MANE Plus Clinical | ENSP00000407821.2:p.Ala1421= | |
| ENST00000576164.6:n.45T>G (MYH11) | ||
| ENST00000576790.7:c.4242T>G (MYH11) | ENSP00000458731.1:p.Ala1414= | |
| ENST00000577101.6:c.1124A>C (NDE1) | ENSP00000461729.2:p.Lys375Thr | |
| ENST00000652121.1:c.*2425T>G (MYH11) | ENSP00000498314.1:n.*2425T>G | |
| ENST00000674538.1:c.889A>C (NDE1) | ENSP00000501547.1:p.Ser297Arg | |
| ENST00000674554.1:c.*33A>C (NDE1) | ENSP00000502635.1:n.*33A>C | |
| ENST00000674581.1:c.*100A>C (NDE1) | ENSP00000502100.1:n.*100A>C | |
| ENST00000674588.1:c.889A>C (NDE1) | ENSP00000502802.1:p.Ser297Arg | |
| ENST00000674888.1:c.*33A>C (NDE1) | ENSP00000501936.1:n.*33A>C | |
| ENST00000674900.1:c.*442A>C (NDE1) | ENSP00000502662.1:n.*442A>C | |
| ENST00000674995.1:c.805A>C (NDE1) | ENSP00000502414.1:p.Ser269Arg | |
| ENST00000675171.1:c.*793A>C (NDE1) | ENSP00000501812.1:n.*793A>C | |
| ENST00000675926.1:c.*33A>C (NDE1) | ENSP00000502354.1:n.*33A>C | |
| ENST00000675951.1:c.*33A>C (NDE1) | ENSP00000502160.1:n.*33A>C | |
| ENST00000300036.5:c.4242T>G (MYH11) | ENSP00000300036.5:p.Ala1414= | |
| ENST00000342673.9:c.*33A>C (NDE1) | ENSP00000345892.5:n.*33A>C | |
| ENST00000396324.7:c.4263T>G (MYH11) | ENSP00000379616.3:p.Ala1421= | |
| ENST00000396354.5:c.*33A>C (NDE1) | ENSP00000379642.1:n.*33A>C | |
| ENST00000396355.5:c.*33A>C (NDE1) | ENSP00000379643.1:n.*33A>C | |
| ENST00000452625.6:c.4263T>G (MYH11) | ENSP00000407821.2:p.Ala1421= | |
| ENST00000571275.1:n.530T>G (MYH11) | ||
| ENST00000572503.1:n.278A>C (NDE1) | ||
| ENST00000576164.5:n.45T>G (MYH11) | ||
| ENST00000576790.6:c.4242T>G (MYH11) | ENSP00000458731.1:p.Ala1414= | |
| ENST00000616439.4:c.4263T>G (MYH11) | ENSP00000484924.1:p.Ala1421= | |
| NM_001040113.1:c.4263T>G (MYH11) | NP_001035202.1:p.Ala1421= | |
| NM_001040114.1:c.4263T>G (MYH11) | NP_001035203.1:p.Ala1421= | |
| NM_001143979.1:c.*33A>C (NDE1) | NP_001137451.1:n.*33A>C | |
| NM_002474.2:c.4242T>G (MYH11) | NP_002465.1:p.Ala1414= | |
| NM_017668.2:c.*33A>C (NDE1) | NP_060138.1:n.*33A>C | |
| NM_022844.2:c.4242T>G (MYH11) | NP_074035.1:p.Ala1414= | |
| XM_011522502.1:c.4242T>G (MYH11) | XP_011520804.1:p.Ala1414= | |
| XM_011522502.2:c.4242T>G (MYH11) | XP_011520804.1:p.Ala1414= | |
| XM_017023250.1:c.4263T>G (MYH11) | XP_016878739.1:p.Ala1421= | |
| NM_002474.3:c.4242T>G (MYH11) MANE Select | NP_002465.1:p.Ala1414= | |
| NM_017668.3:c.*33A>C (NDE1) MANE Select | NP_060138.1:n.*33A>C | |
| NM_001040113.2:c.4263T>G (MYH11) MANE Plus Clinical | NP_001035202.1:p.Ala1421= | |
| NM_001143979.2:c.*33A>C (NDE1) | NP_001137451.1:n.*33A>C | |
| NM_001040114.2:c.4263T>G (MYH11) | NP_001035203.1:p.Ala1421= | |
| NM_022844.3:c.4242T>G (MYH11) | NP_074035.1:p.Ala1414= |