Linked Data
ClinVar Variation Id:
45910
dbSNP Id:
rs377100683
ExAC:
10:73468881 G / T
gnomAD v2:
10-73468881-G-T
gnomAD v3:
10-71709124-G-T
gnomAD v4:
10-71709124-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71709124G>T , CM000672.2:g.71709124G>T | GRCh38 |
| NC_000010.10:g.73468881G>T , CM000672.1:g.73468881G>T | GRCh37 |
| NC_000010.9:g.73138887G>T | NCBI36 |
| NG_008835.1:g.317178G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.3133G>T MANE Select | ENSP00000224721.9:p.Val1045Leu | |
| ENST00000398809.9:c.3133G>T | ENSP00000381789.5:p.Val1045Leu | |
| ENST00000442677.4:c.3133G>T | ENSP00000388894.3:p.Val1045Leu | |
| ENST00000466757.8:c.2564G>T | ||
| ENST00000224721.10:c.3148G>T | ENSP00000224721.8:p.Val1050Leu | |
| ENST00000398809.8:c.3133G>T | ENSP00000381789.5:p.Val1045Leu | |
| ENST00000442677.3:c.1908G>T | ||
| ENST00000466757.7:c.2564G>T | ||
| ENST00000616684.4:c.3133G>T | ENSP00000482036.2:p.Val1045Leu | |
| ENST00000622827.4:c.3133G>T | ENSP00000483211.1:p.Val1045Leu | |
| NM_001171930.1:c.3133G>T | NP_001165401.1:p.Val1045Leu | |
| NM_022124.5:c.3133G>T | NP_071407.4:p.Val1045Leu | |
| XM_006717940.2:c.3328G>T | XP_006718003.1:p.Val1110Leu | |
| XM_006717942.2:c.3262G>T | XP_006718005.1:p.Val1088Leu | |
| XM_011540039.1:c.3328G>T | XP_011538341.1:p.Val1110Leu | |
| XM_011540040.1:c.3322G>T | XP_011538342.1:p.Val1108Leu | |
| XM_011540041.1:c.3268G>T | XP_011538343.1:p.Val1090Leu | |
| XM_011540042.1:c.3328G>T | XP_011538344.1:p.Val1110Leu | |
| XM_011540043.1:c.3328G>T | XP_011538345.1:p.Val1110Leu | |
| XM_011540044.1:c.3193G>T | XP_011538346.1:p.Val1065Leu | |
| XM_011540045.1:c.3328G>T | XP_011538347.1:p.Val1110Leu | |
| XM_011540046.1:c.2788G>T | XP_011538348.1:p.Val930Leu | |
| XM_011540047.1:c.2146G>T | XP_011538349.1:p.Val716Leu | |
| XM_011540048.1:c.3328G>T | XP_011538350.1:p.Val1110Leu | |
| XM_011540049.1:c.3328G>T | XP_011538351.1:p.Val1110Leu | |
| XM_011540050.1:c.3328G>T | XP_011538352.1:p.Val1110Leu | |
| XM_011540051.1:c.3328G>T | XP_011538353.1:p.Val1110Leu | |
| XM_011540053.1:c.3328G>T | XP_011538355.1:p.Val1110Leu | |
| XR_945796.1:n.3571G>T | ||
| NM_001171930.2:c.3133G>T | NP_001165401.1:p.Val1045Leu | |
| NM_022124.6:c.3133G>T MANE Select | NP_071407.4:p.Val1045Leu |