Linked Data
dbSNP Id:
rs764187478
ExAC:
7:139661938 C / T
gnomAD v2:
7-139661938-C-T
gnomAD v4:
7-139962139-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.139962139C>T , CM000669.2:g.139962139C>T | GRCh38 |
| NC_000007.13:g.139661938C>T , CM000669.1:g.139661938C>T | GRCh37 |
| NC_000007.12:g.139308407C>T | NCBI36 |
| NG_008422.2:g.188758C>T , LRG_579:g.188758C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336425.10:c.1040C>T | ENSP00000338087.7:p.Thr347Ile | |
| ENST00000411653.6:c.1040C>T | ENSP00000411326.3:p.Thr347Ile | |
| ENST00000422328.6:c.*829C>T | ENSP00000415892.3:n.*829C>T | |
| ENST00000448866.7:c.1040C>T MANE Select | ENSP00000402536.3:p.Thr347Ile | |
| ENST00000458722.6:c.1178C>T | ENSP00000411274.3:p.Thr393Ile | |
| ENST00000650822.1:c.1043C>T | ENSP00000498517.1:p.Thr348Ile | |
| ENST00000652056.1:c.1043C>T | ENSP00000498271.1:p.Thr348Ile | |
| ENST00000263552.10:c.1043C>T | ENSP00000263552.6:p.Thr348Ile | |
| ENST00000336425.9:c.1040C>T | ENSP00000338087.5:p.Thr347Ile | |
| ENST00000411653.5:c.1040C>T | ENSP00000411326.1:p.Thr347Ile | |
| ENST00000414508.6:c.1043C>T | ENSP00000392702.2:p.Thr348Ile | |
| ENST00000416849.6:c.1181C>T | ENSP00000389414.2:p.Thr394Ile | |
| ENST00000422328.5:c.*829C>T | ENSP00000415892.1:n.*829C>T | |
| ENST00000425687.5:c.839C>T | ENSP00000388736.1:p.Thr280Ile | |
| ENST00000448866.5:c.1040C>T | ENSP00000402536.1:p.Thr347Ile | |
| ENST00000458722.5:c.1178C>T | ENSP00000411274.1:p.Thr393Ile | |
| ENST00000462275.5:n.1011C>T | ||
| ENST00000469630.1:n.523C>T | ||
| ENST00000494876.1:n.405C>T | ||
| NM_001061.4:c.1043C>T | NP_001052.2:p.Thr348Ile | |
| NM_001130966.2:c.1043C>T , LRG_579t1:c.1043C>T | NP_001124438.1:p.Thr348Ile | |
| NM_001166253.1:c.1181C>T , LRG_579t4:c.1181C>T | NP_001159725.1:p.Thr394Ile | |
| NM_001166254.1:c.839C>T , LRG_579t3:c.839C>T | NP_001159726.1:p.Thr280Ile | |
| NM_001314028.1:c.983C>T | NP_001300957.1:p.Thr328Ile | |
| NM_030984.3:c.1043C>T , LRG_579t2:c.1043C>T | NP_112246.2:p.Thr348Ile | |
| NR_029394.1:c.-4294965989C>T | ||
| XM_011516544.1:c.1043C>T | XP_011514846.1:p.Thr348Ile | |
| NM_001061.5:c.1040C>T | NP_001052.3:p.Thr347Ile | |
| NM_001130966.3:c.1040C>T | NP_001124438.2:p.Thr347Ile | |
| NM_001166253.2:c.1178C>T | NP_001159725.2:p.Thr393Ile | |
| NM_001166254.2:c.839C>T | NP_001159726.1:p.Thr280Ile | |
| NM_001314028.2:c.983C>T | NP_001300957.1:p.Thr328Ile | |
| NM_001366537.1:c.857C>T | NP_001353466.1:p.Thr286Ile | |
| NM_030984.4:c.1040C>T | NP_112246.3:p.Thr347Ile | |
| XM_011516544.3:c.1043C>T | XP_011514846.1:p.Thr348Ile | |
| XM_017012570.2:c.1043C>T | XP_016868059.1:p.Thr348Ile | |
| XM_017012571.2:c.1043C>T | XP_016868060.1:p.Thr348Ile | |
| XM_017012572.2:c.1043C>T | XP_016868061.1:p.Thr348Ile | |
| XM_024446901.1:c.785C>T | XP_024302669.1:p.Thr262Ile | |
| NM_001061.7:c.1040C>T MANE Select | NP_001052.3:p.Thr347Ile | |
| NM_001130966.4:c.1040C>T | NP_001124438.2:p.Thr347Ile | |
| NM_001166253.3:c.1178C>T | NP_001159725.2:p.Thr393Ile | |
| NM_001166254.3:c.839C>T | NP_001159726.1:p.Thr280Ile | |
| NM_001314028.3:c.983C>T | NP_001300957.1:p.Thr328Ile | |
| NM_001366537.2:c.857C>T | NP_001353466.1:p.Thr286Ile | |
| NM_030984.5:c.1040C>T | NP_112246.3:p.Thr347Ile | |
| NM_001130966.5:c.1040C>T | NP_001124438.2:p.Thr347Ile | |
| NM_001166253.4:c.1178C>T | NP_001159725.2:p.Thr393Ile | |
| NM_001166254.4:c.839C>T | NP_001159726.1:p.Thr280Ile | |
| NM_001314028.4:c.983C>T | NP_001300957.1:p.Thr328Ile | |
| NM_001366537.3:c.857C>T | NP_001353466.1:p.Thr286Ile | |
| NM_030984.6:c.1040C>T | NP_112246.3:p.Thr347Ile |