Linked Data
ClinVar Variation Id:
201043
dbSNP Id:
rs149529195
ExAC:
16:15797971 G / A
gnomAD v2:
16-15797971-G-A
gnomAD v3:
16-15704114-G-A
gnomAD v4:
16-15704114-G-A
COSMIC:
COSM4058557
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.15704114G>A , CM000678.2:g.15704114G>A | GRCh38 |
| NC_000016.9:g.15797971G>A , CM000678.1:g.15797971G>A | GRCh37 |
| NC_000016.8:g.15705472G>A | NCBI36 |
| NG_009299.1:g.157917C>T | |
| NG_021210.1:g.65848G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300036.6:c.5796C>T (MYH11) MANE Select | ENSP00000300036.5:p.Asn1932= | |
| ENST00000396354.6:c.947+7254G>A (NDE1) MANE Select | ENSP00000379642.1:n.947+7254G>A | |
| ENST00000452625.7:c.*18C>T (MYH11) MANE Plus Clinical | ENSP00000407821.2:n.*18C>T | |
| ENST00000572756.6:c.795+9858G>A (NDE1) | ENSP00000460436.2:n.795+9858G>A | |
| ENST00000576790.7:c.*18C>T (MYH11) | ENSP00000458731.1:n.*18C>T | |
| ENST00000577101.6:c.1030+7254G>A (NDE1) | ENSP00000461729.2:n.1030+7254G>A | |
| ENST00000652121.1:c.*3979C>T (MYH11) | ENSP00000498314.1:n.*3979C>T | |
| ENST00000674538.1:c.795+9858G>A (NDE1) | ENSP00000501547.1:n.795+9858G>A | |
| ENST00000674554.1:c.947+7254G>A (NDE1) | ENSP00000502635.1:n.947+7254G>A | |
| ENST00000674581.1:c.*6+7254G>A (NDE1) | ENSP00000502100.1:n.*6+7254G>A | |
| ENST00000674588.1:c.795+9858G>A (NDE1) | ENSP00000502802.1:n.795+9858G>A | |
| ENST00000674888.1:c.947+7254G>A (NDE1) | ENSP00000501936.1:n.947+7254G>A | |
| ENST00000674900.1:c.*348+7254G>A (NDE1) | ENSP00000502662.1:n.*348+7254G>A | |
| ENST00000674995.1:c.795+9858G>A (NDE1) | ENSP00000502414.1:n.795+9858G>A | |
| ENST00000675171.1:c.*699+7254G>A (NDE1) | ENSP00000501812.1:n.*699+7254G>A | |
| ENST00000675926.1:c.947+7254G>A (NDE1) | ENSP00000502354.1:n.947+7254G>A | |
| ENST00000675951.1:c.947+7254G>A (NDE1) | ENSP00000502160.1:n.947+7254G>A | |
| ENST00000300036.5:c.5796C>T (MYH11) | ENSP00000300036.5:p.Asn1932= | |
| ENST00000342673.9:c.947+7254G>A (NDE1) | ENSP00000345892.5:n.947+7254G>A | |
| ENST00000396324.7:c.5817C>T (MYH11) | ENSP00000379616.3:p.Asn1939= | |
| ENST00000396354.5:c.947+7254G>A (NDE1) | ENSP00000379642.1:n.947+7254G>A | |
| ENST00000396355.5:c.947+7254G>A (NDE1) | ENSP00000379643.1:n.947+7254G>A | |
| ENST00000452625.6:c.*18C>T (MYH11) | ENSP00000407821.2:n.*18C>T | |
| ENST00000572967.1:c.452+4260G>A (NDE1) | ENSP00000459918.1:n.452+4260G>A | |
| ENST00000573694.5:c.379+4260G>A (NDE1) | ||
| ENST00000573908.1:n.168C>T (MYH11) | ||
| ENST00000576790.6:c.*18C>T (MYH11) | ENSP00000458731.1:n.*18C>T | |
| ENST00000616439.4:c.5855C>T (MYH11) | ENSP00000484924.1:p.Thr1952Met | |
| NM_001040113.1:c.*18C>T (MYH11) | NP_001035202.1:n.*18C>T | |
| NM_001040114.1:c.5817C>T (MYH11) | NP_001035203.1:p.Asn1939= | |
| NM_001143979.1:c.947+7254G>A (NDE1) | NP_001137451.1:n.947+7254G>A | |
| NM_002474.2:c.5796C>T (MYH11) | NP_002465.1:p.Asn1932= | |
| NM_017668.2:c.947+7254G>A (NDE1) | NP_060138.1:n.947+7254G>A | |
| NM_022844.2:c.*18C>T (MYH11) | NP_074035.1:n.*18C>T | |
| NM_002474.3:c.5796C>T (MYH11) MANE Select | NP_002465.1:p.Asn1932= | |
| NM_017668.3:c.947+7254G>A (NDE1) MANE Select | NP_060138.1:n.947+7254G>A | |
| NM_001040113.2:c.*18C>T (MYH11) MANE Plus Clinical | NP_001035202.1:n.*18C>T | |
| NM_001143979.2:c.947+7254G>A (NDE1) | NP_001137451.1:n.947+7254G>A | |
| NM_001040114.2:c.5817C>T (MYH11) | NP_001035203.1:p.Asn1939= | |
| NM_022844.3:c.*18C>T (MYH11) | NP_074035.1:n.*18C>T |