Linked Data
ClinVar Variation Id:
318139
dbSNP Id:
rs149894916
gnomAD v2:
16-15819051-C-T
gnomAD v3:
16-15725194-C-T
gnomAD v4:
16-15725194-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.15725194C>T , CM000678.2:g.15725194C>T | GRCh38 |
| NC_000016.9:g.15819051C>T , CM000678.1:g.15819051C>T | GRCh37 |
| NC_000016.8:g.15726552C>T | NCBI36 |
| NG_009299.1:g.136837G>A | |
| NG_021210.1:g.86928C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300036.6:c.3859-202G>A (MYH11) MANE Select | ENSP00000300036.5:n.3859-202G>A | |
| ENST00000396354.6:c.*943C>T (NDE1) MANE Select | ENSP00000379642.1:n.*943C>T | |
| ENST00000452625.7:c.3880-202G>A (MYH11) MANE Plus Clinical | ENSP00000407821.2:n.3880-202G>A | |
| ENST00000576790.7:c.3859-202G>A (MYH11) | ENSP00000458731.1:n.3859-202G>A | |
| ENST00000577101.6:c.2034C>T (NDE1) | ENSP00000461729.2:n.2034C>T | |
| ENST00000652121.1:c.*2042-202G>A (MYH11) | ENSP00000498314.1:n.*2042-202G>A | |
| ENST00000674538.1:c.*761C>T (NDE1) | ENSP00000501547.1:n.*761C>T | |
| ENST00000674554.1:c.*868+75C>T (NDE1) | ENSP00000502635.1:n.*868+75C>T | |
| ENST00000674581.1:c.*1010C>T (NDE1) | ENSP00000502100.1:n.*1010C>T | |
| ENST00000674588.1:c.*761C>T (NDE1) | ENSP00000502802.1:n.*761C>T | |
| ENST00000674888.1:c.*868+75C>T (NDE1) | ENSP00000501936.1:n.*868+75C>T | |
| ENST00000674900.1:c.*1277+75C>T (NDE1) | ENSP00000502662.1:n.*1277+75C>T | |
| ENST00000674995.1:c.*761C>T (NDE1) | ENSP00000502414.1:n.*761C>T | |
| ENST00000675171.1:c.*1628+75C>T (NDE1) | ENSP00000501812.1:n.*1628+75C>T | |
| ENST00000675926.1:c.*868+75C>T (NDE1) | ENSP00000502354.1:n.*868+75C>T | |
| ENST00000675951.1:c.*943C>T (NDE1) | ENSP00000502160.1:n.*943C>T | |
| ENST00000300036.5:c.3859-202G>A (MYH11) | ENSP00000300036.5:n.3859-202G>A | |
| ENST00000342673.9:c.*943C>T (NDE1) | ENSP00000345892.5:n.*943C>T | |
| ENST00000396324.7:c.3880-202G>A (MYH11) | ENSP00000379616.3:n.3880-202G>A | |
| ENST00000396354.5:c.*943C>T (NDE1) | ENSP00000379642.1:n.*943C>T | |
| ENST00000396355.5:c.*943C>T (NDE1) | ENSP00000379643.1:n.*943C>T | |
| ENST00000452625.6:c.3880-202G>A (MYH11) | ENSP00000407821.2:n.3880-202G>A | |
| ENST00000576790.6:c.3859-202G>A (MYH11) | ENSP00000458731.1:n.3859-202G>A | |
| ENST00000616439.4:c.3880-202G>A (MYH11) | ENSP00000484924.1:n.3880-202G>A | |
| NM_001040113.1:c.3880-202G>A (MYH11) | NP_001035202.1:n.3880-202G>A | |
| NM_001040114.1:c.3880-202G>A (MYH11) | NP_001035203.1:n.3880-202G>A | |
| NM_001143979.1:c.*943C>T (NDE1) | NP_001137451.1:n.*943C>T | |
| NM_002474.2:c.3859-202G>A (MYH11) | NP_002465.1:n.3859-202G>A | |
| NM_017668.2:c.*943C>T (NDE1) | NP_060138.1:n.*943C>T | |
| NM_022844.2:c.3859-202G>A (MYH11) | NP_074035.1:n.3859-202G>A | |
| XM_011522502.1:c.3859-202G>A (MYH11) | XP_011520804.1:n.3859-202G>A | |
| XM_011522502.2:c.3859-202G>A (MYH11) | XP_011520804.1:n.3859-202G>A | |
| XM_017023250.1:c.3880-202G>A (MYH11) | XP_016878739.1:n.3880-202G>A | |
| NM_002474.3:c.3859-202G>A (MYH11) MANE Select | NP_002465.1:n.3859-202G>A | |
| NM_017668.3:c.*943C>T (NDE1) MANE Select | NP_060138.1:n.*943C>T | |
| NM_001040113.2:c.3880-202G>A (MYH11) MANE Plus Clinical | NP_001035202.1:n.3880-202G>A | |
| NM_001143979.2:c.*943C>T (NDE1) | NP_001137451.1:n.*943C>T | |
| NM_001040114.2:c.3880-202G>A (MYH11) | NP_001035203.1:n.3880-202G>A | |
| NM_022844.3:c.3859-202G>A (MYH11) | NP_074035.1:n.3859-202G>A |