Linked Data
ClinVar Variation Id:
197069
dbSNP Id:
rs112948385
ExAC:
16:15809118 G / A
gnomAD v2:
16-15809118-G-A
gnomAD v3:
16-15715261-G-A
gnomAD v4:
16-15715261-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.15715261G>A , CM000678.2:g.15715261G>A | GRCh38 |
| NC_000016.9:g.15809118G>A , CM000678.1:g.15809118G>A | GRCh37 |
| NC_000016.8:g.15716619G>A | NCBI36 |
| NG_009299.1:g.146770C>T | |
| NG_021210.1:g.76995G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000300036.6:c.5516C>T (MYH11) MANE Select | ENSP00000300036.5:p.Ala1839Val | |
| ENST00000396354.6:c.948-8930G>A (NDE1) MANE Select | ENSP00000379642.1:n.948-8930G>A | |
| ENST00000452625.7:c.5537C>T (MYH11) MANE Plus Clinical | ENSP00000407821.2:p.Ala1846Val | |
| ENST00000572756.6:c.796-8930G>A (NDE1) | ENSP00000460436.2:n.796-8930G>A | |
| ENST00000576164.6:n.3436C>T (MYH11) | ||
| ENST00000576790.7:c.5516C>T (MYH11) | ENSP00000458731.1:p.Ala1839Val | |
| ENST00000577101.6:c.1031-8930G>A (NDE1) | ENSP00000461729.2:n.1031-8930G>A | |
| ENST00000652121.1:c.*3699C>T (MYH11) | ENSP00000498314.1:n.*3699C>T | |
| ENST00000674538.1:c.796-8930G>A (NDE1) | ENSP00000501547.1:n.796-8930G>A | |
| ENST00000674554.1:c.948-8930G>A (NDE1) | ENSP00000502635.1:n.948-8930G>A | |
| ENST00000674581.1:c.*7-8930G>A (NDE1) | ENSP00000502100.1:n.*7-8930G>A | |
| ENST00000674588.1:c.796-8930G>A (NDE1) | ENSP00000502802.1:n.796-8930G>A | |
| ENST00000674888.1:c.948-8930G>A (NDE1) | ENSP00000501936.1:n.948-8930G>A | |
| ENST00000674900.1:c.*349-8930G>A (NDE1) | ENSP00000502662.1:n.*349-8930G>A | |
| ENST00000674995.1:c.796-9014G>A (NDE1) | ENSP00000502414.1:n.796-9014G>A | |
| ENST00000675171.1:c.*700-8930G>A (NDE1) | ENSP00000501812.1:n.*700-8930G>A | |
| ENST00000675926.1:c.948-8930G>A (NDE1) | ENSP00000502354.1:n.948-8930G>A | |
| ENST00000675951.1:c.948-8930G>A (NDE1) | ENSP00000502160.1:n.948-8930G>A | |
| ENST00000300036.5:c.5516C>T (MYH11) | ENSP00000300036.5:p.Ala1839Val | |
| ENST00000342673.9:c.948-8930G>A (NDE1) | ENSP00000345892.5:n.948-8930G>A | |
| ENST00000396324.7:c.5537C>T (MYH11) | ENSP00000379616.3:p.Ala1846Val | |
| ENST00000396354.5:c.948-8930G>A (NDE1) | ENSP00000379642.1:n.948-8930G>A | |
| ENST00000396355.5:c.948-8930G>A (NDE1) | ENSP00000379643.1:n.948-8930G>A | |
| ENST00000452625.6:c.5537C>T (MYH11) | ENSP00000407821.2:p.Ala1846Val | |
| ENST00000571275.1:n.1804C>T (MYH11) | ||
| ENST00000572967.1:c.453-8930G>A (NDE1) | ENSP00000459918.1:n.453-8930G>A | |
| ENST00000573694.5:c.380-8930G>A (NDE1) | ||
| ENST00000576164.5:n.3436C>T (MYH11) | ||
| ENST00000576790.6:c.5516C>T (MYH11) | ENSP00000458731.1:p.Ala1839Val | |
| ENST00000616439.4:c.5537C>T (MYH11) | ENSP00000484924.1:p.Ala1846Val | |
| NM_001040113.1:c.5537C>T (MYH11) | NP_001035202.1:p.Ala1846Val | |
| NM_001040114.1:c.5537C>T (MYH11) | NP_001035203.1:p.Ala1846Val | |
| NM_001143979.1:c.948-8930G>A (NDE1) | NP_001137451.1:n.948-8930G>A | |
| NM_002474.2:c.5516C>T (MYH11) | NP_002465.1:p.Ala1839Val | |
| NM_017668.2:c.948-8930G>A (NDE1) | NP_060138.1:n.948-8930G>A | |
| NM_022844.2:c.5516C>T (MYH11) | NP_074035.1:p.Ala1839Val | |
| XM_011522502.1:c.5516C>T (MYH11) | XP_011520804.1:p.Ala1839Val | |
| XM_011522502.2:c.5516C>T (MYH11) | XP_011520804.1:p.Ala1839Val | |
| XM_017023250.1:c.5537C>T (MYH11) | XP_016878739.1:p.Ala1846Val | |
| NM_002474.3:c.5516C>T (MYH11) MANE Select | NP_002465.1:p.Ala1839Val | |
| NM_017668.3:c.948-8930G>A (NDE1) MANE Select | NP_060138.1:n.948-8930G>A | |
| NM_001040113.2:c.5537C>T (MYH11) MANE Plus Clinical | NP_001035202.1:p.Ala1846Val | |
| NM_001143979.2:c.948-8930G>A (NDE1) | NP_001137451.1:n.948-8930G>A | |
| NM_001040114.2:c.5537C>T (MYH11) | NP_001035203.1:p.Ala1846Val | |
| NM_022844.3:c.5516C>T (MYH11) | NP_074035.1:p.Ala1839Val |