Linked Data
ClinVar Variation Id:
166811
ClinVar RCV Id:
RCV000283445
RCV000402667
RCV000723774
RCV000764913
RCV001195485
RCV002514944
RCV001272551
RCV003474806
dbSNP Id:
rs201053044
ExAC:
10:73466722 G / A
gnomAD v2:
10-73466722-G-A
gnomAD v3:
10-71706965-G-A
gnomAD v4:
10-71706965-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71706965G>A , CM000672.2:g.71706965G>A | GRCh38 |
| NC_000010.10:g.73466722G>A , CM000672.1:g.73466722G>A | GRCh37 |
| NC_000010.9:g.73136728G>A | NCBI36 |
| NG_008835.1:g.315019G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.3022G>A MANE Select | ENSP00000224721.9:p.Val1008Met | |
| ENST00000398809.9:c.3022G>A | ENSP00000381789.5:p.Val1008Met | |
| ENST00000442677.4:c.3022G>A | ENSP00000388894.3:p.Val1008Met | |
| ENST00000466757.8:c.2453G>A | ||
| ENST00000224721.10:c.3037G>A | ENSP00000224721.8:p.Val1013Met | |
| ENST00000299366.11:c.3022G>A | ENSP00000299366.8:p.Val1008Met | |
| ENST00000398809.8:c.3022G>A | ENSP00000381789.5:p.Val1008Met | |
| ENST00000442677.3:c.1797G>A | ||
| ENST00000466757.7:c.2453G>A | ||
| ENST00000616684.4:c.3022G>A | ENSP00000482036.2:p.Val1008Met | |
| ENST00000622827.4:c.3022G>A | ENSP00000483211.1:p.Val1008Met | |
| NM_001171930.1:c.3022G>A | NP_001165401.1:p.Val1008Met | |
| NM_001171931.1:c.3022G>A | NP_001165402.1:p.Val1008Met | |
| NM_022124.5:c.3022G>A | NP_071407.4:p.Val1008Met | |
| XM_006717940.2:c.3217G>A | XP_006718003.1:p.Val1073Met | |
| XM_006717942.2:c.3151G>A | XP_006718005.1:p.Val1051Met | |
| XM_011540039.1:c.3217G>A | XP_011538341.1:p.Val1073Met | |
| XM_011540040.1:c.3211G>A | XP_011538342.1:p.Val1071Met | |
| XM_011540041.1:c.3157G>A | XP_011538343.1:p.Val1053Met | |
| XM_011540042.1:c.3217G>A | XP_011538344.1:p.Val1073Met | |
| XM_011540043.1:c.3217G>A | XP_011538345.1:p.Val1073Met | |
| XM_011540044.1:c.3082G>A | XP_011538346.1:p.Val1028Met | |
| XM_011540045.1:c.3217G>A | XP_011538347.1:p.Val1073Met | |
| XM_011540046.1:c.2677G>A | XP_011538348.1:p.Val893Met | |
| XM_011540047.1:c.2035G>A | XP_011538349.1:p.Val679Met | |
| XM_011540048.1:c.3217G>A | XP_011538350.1:p.Val1073Met | |
| XM_011540049.1:c.3217G>A | XP_011538351.1:p.Val1073Met | |
| XM_011540050.1:c.3217G>A | XP_011538352.1:p.Val1073Met | |
| XM_011540051.1:c.3217G>A | XP_011538353.1:p.Val1073Met | |
| XM_011540053.1:c.3217G>A | XP_011538355.1:p.Val1073Met | |
| XM_011540054.1:c.3157G>A | XP_011538356.1:p.Val1053Met | |
| XR_945796.1:n.3460G>A | ||
| XR_946052.1:n.82+2041C>T | ||
| NM_001171930.2:c.3022G>A | NP_001165401.1:p.Val1008Met | |
| NM_001171931.2:c.3022G>A | NP_001165402.1:p.Val1008Met | |
| NM_022124.6:c.3022G>A MANE Select | NP_071407.4:p.Val1008Met |