Linked Data
ClinVar Variation Id:
138353
ClinVar RCV Id:
RCV000146505
RCV000245108
RCV000304468
RCV000601977
RCV000622103
RCV001775612
RCV001775611
RCV001812088
dbSNP Id:
rs1050162
ExAC:
16:15811062 C / T
gnomAD v2:
16-15811062-C-T
gnomAD v3:
16-15717205-C-T
gnomAD v4:
16-15717205-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.15717205C>T , CM000678.2:g.15717205C>T | GRCh38 |
| NC_000016.9:g.15811062C>T , CM000678.1:g.15811062C>T | GRCh37 |
| NC_000016.8:g.15718563C>T | NCBI36 |
| NG_009299.1:g.144826G>A | |
| NG_021210.1:g.78939C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300036.6:c.5439G>A (MYH11) MANE Select | ENSP00000300036.5:p.Lys1813= | |
| ENST00000396354.6:c.948-6986C>T (NDE1) MANE Select | ENSP00000379642.1:n.948-6986C>T | |
| ENST00000452625.7:c.5460G>A (MYH11) MANE Plus Clinical | ENSP00000407821.2:p.Lys1820= | |
| ENST00000572756.6:c.796-6986C>T (NDE1) | ENSP00000460436.2:n.796-6986C>T | |
| ENST00000576164.6:n.3359G>A (MYH11) | ||
| ENST00000576790.7:c.5439G>A (MYH11) | ENSP00000458731.1:p.Lys1813= | |
| ENST00000577101.6:c.1031-6986C>T (NDE1) | ENSP00000461729.2:n.1031-6986C>T | |
| ENST00000652121.1:c.*3622G>A (MYH11) | ENSP00000498314.1:n.*3622G>A | |
| ENST00000674538.1:c.796-6986C>T (NDE1) | ENSP00000501547.1:n.796-6986C>T | |
| ENST00000674554.1:c.948-6986C>T (NDE1) | ENSP00000502635.1:n.948-6986C>T | |
| ENST00000674581.1:c.*7-6986C>T (NDE1) | ENSP00000502100.1:n.*7-6986C>T | |
| ENST00000674588.1:c.796-6986C>T (NDE1) | ENSP00000502802.1:n.796-6986C>T | |
| ENST00000674888.1:c.948-6986C>T (NDE1) | ENSP00000501936.1:n.948-6986C>T | |
| ENST00000674900.1:c.*349-6986C>T (NDE1) | ENSP00000502662.1:n.*349-6986C>T | |
| ENST00000674995.1:c.796-7070C>T (NDE1) | ENSP00000502414.1:n.796-7070C>T | |
| ENST00000675171.1:c.*700-6986C>T (NDE1) | ENSP00000501812.1:n.*700-6986C>T | |
| ENST00000675926.1:c.948-6986C>T (NDE1) | ENSP00000502354.1:n.948-6986C>T | |
| ENST00000675951.1:c.948-6986C>T (NDE1) | ENSP00000502160.1:n.948-6986C>T | |
| ENST00000300036.5:c.5439G>A (MYH11) | ENSP00000300036.5:p.Lys1813= | |
| ENST00000342673.9:c.948-6986C>T (NDE1) | ENSP00000345892.5:n.948-6986C>T | |
| ENST00000396324.7:c.5460G>A (MYH11) | ENSP00000379616.3:p.Lys1820= | |
| ENST00000396354.5:c.948-6986C>T (NDE1) | ENSP00000379642.1:n.948-6986C>T | |
| ENST00000396355.5:c.948-6986C>T (NDE1) | ENSP00000379643.1:n.948-6986C>T | |
| ENST00000452625.6:c.5460G>A (MYH11) | ENSP00000407821.2:p.Lys1820= | |
| ENST00000571275.1:n.1727G>A (MYH11) | ||
| ENST00000572967.1:c.453-6986C>T (NDE1) | ENSP00000459918.1:n.453-6986C>T | |
| ENST00000573694.5:c.380-6986C>T (NDE1) | ||
| ENST00000576164.5:n.3359G>A (MYH11) | ||
| ENST00000576790.6:c.5439G>A (MYH11) | ENSP00000458731.1:p.Lys1813= | |
| ENST00000616439.4:c.5460G>A (MYH11) | ENSP00000484924.1:p.Lys1820= | |
| NM_001040113.1:c.5460G>A (MYH11) | NP_001035202.1:p.Lys1820= | |
| NM_001040114.1:c.5460G>A (MYH11) | NP_001035203.1:p.Lys1820= | |
| NM_001143979.1:c.948-6986C>T (NDE1) | NP_001137451.1:n.948-6986C>T | |
| NM_002474.2:c.5439G>A (MYH11) | NP_002465.1:p.Lys1813= | |
| NM_017668.2:c.948-6986C>T (NDE1) | NP_060138.1:n.948-6986C>T | |
| NM_022844.2:c.5439G>A (MYH11) | NP_074035.1:p.Lys1813= | |
| XM_011522502.1:c.5439G>A (MYH11) | XP_011520804.1:p.Lys1813= | |
| XM_011522502.2:c.5439G>A (MYH11) | XP_011520804.1:p.Lys1813= | |
| XM_017023250.1:c.5460G>A (MYH11) | XP_016878739.1:p.Lys1820= | |
| NM_002474.3:c.5439G>A (MYH11) MANE Select | NP_002465.1:p.Lys1813= | |
| NM_017668.3:c.948-6986C>T (NDE1) MANE Select | NP_060138.1:n.948-6986C>T | |
| NM_001040113.2:c.5460G>A (MYH11) MANE Plus Clinical | NP_001035202.1:p.Lys1820= | |
| NM_001143979.2:c.948-6986C>T (NDE1) | NP_001137451.1:n.948-6986C>T | |
| NM_001040114.2:c.5460G>A (MYH11) | NP_001035203.1:p.Lys1820= | |
| NM_022844.3:c.5439G>A (MYH11) | NP_074035.1:p.Lys1813= |