Linked Data
ClinVar Variation Id:
533544
dbSNP Id:
rs147502239
ExAC:
2:228563995 C / T
gnomAD v2:
2-228563995-C-T
gnomAD v3:
2-227699279-C-T
gnomAD v4:
2-227699279-C-T
COSMIC:
COSM3972050
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227699279C>T , CM000664.2:g.227699279C>T | GRCh38 |
| NC_000002.11:g.228563995C>T , CM000664.1:g.228563995C>T | GRCh37 |
| NC_000002.10:g.228272239C>T | NCBI36 |
| NG_016359.1:g.23751G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258403.8:c.436G>A | ENSP00000258403.3:p.Val146Ile | |
| ENST00000425817.6:c.*461G>A | ENSP00000397393.2:n.*461G>A | |
| ENST00000431622.6:c.*461G>A | ENSP00000400627.1:n.*461G>A | |
| ENST00000456524.6:c.613G>A | ENSP00000399001.2:p.Val205Ile | |
| ENST00000642268.1:n.626G>A | ||
| ENST00000644224.2:c.436G>A MANE Select | ENSP00000495385.1:p.Val146Ile | |
| ENST00000645700.1:c.151-433G>A | ENSP00000495372.1:n.151-433G>A | |
| ENST00000645923.1:c.121G>A | ENSP00000495010.1:p.Val41Ile | |
| ENST00000646591.1:c.472G>A | ENSP00000496701.1:p.Val158Ile | |
| ENST00000647113.1:c.150+2890G>A | ENSP00000494966.1:n.150+2890G>A | |
| ENST00000676066.1:n.166G>A | ||
| ENST00000258403.7:c.436G>A | ENSP00000258403.3:p.Val146Ile | |
| ENST00000409287.5:c.259+177G>A | ENSP00000386298.1:n.259+177G>A | |
| ENST00000425817.5:c.436G>A | ENSP00000397393.1:p.Val146Ile | |
| NM_025243.3:c.436G>A | NP_079519.1:p.Val146Ile | |
| XM_005246874.2:c.424G>A | XP_005246931.1:p.Val142Ile | |
| XM_006712779.2:c.451G>A | XP_006712842.1:p.Val151Ile | |
| XM_011511931.1:c.472G>A | XP_011510233.1:p.Val158Ile | |
| XM_011511932.1:c.436G>A | XP_011510234.1:p.Val146Ile | |
| XM_011511933.1:c.436G>A | XP_011510235.1:p.Val146Ile | |
| XM_005246874.3:c.424G>A | XP_005246931.1:p.Val142Ile | |
| XM_011511931.2:c.472G>A | XP_011510233.1:p.Val158Ile | |
| XM_017005030.1:c.676G>A | XP_016860519.1:p.Val226Ile | |
| XM_017005031.1:c.655G>A | XP_016860520.1:p.Val219Ile | |
| XM_017005032.1:c.640G>A | XP_016860521.1:p.Val214Ile | |
| XM_017005033.1:c.640G>A | XP_016860522.1:p.Val214Ile | |
| XM_017005034.2:c.640G>A | XP_016860523.1:p.Val214Ile | |
| NM_025243.4:c.436G>A MANE Select | NP_079519.1:p.Val146Ile | |
| NM_001371411.1:c.436G>A | NP_001358340.1:p.Val146Ile | |
| NM_001371412.1:c.436G>A | NP_001358341.1:p.Val146Ile | |
| NM_001371413.1:c.424G>A | NP_001358342.1:p.Val142Ile | |
| NM_001371414.1:c.424G>A | NP_001358343.1:p.Val142Ile |