Linked Data
ClinVar Variation Id:
196309
ClinVar RCV Id:
RCV000177112
dbSNP Id:
rs775012519
ExAC:
7:139575393 G / A
gnomAD v2:
7-139575393-G-A
gnomAD v3:
7-139875594-G-A
gnomAD v4:
7-139875594-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.139875594G>A , CM000669.2:g.139875594G>A | GRCh38 |
| NC_000007.13:g.139575393G>A , CM000669.1:g.139575393G>A | GRCh37 |
| NC_000007.12:g.139221862G>A | NCBI36 |
| NG_008422.2:g.102213G>A , LRG_579:g.102213G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336425.10:c.193G>A | ENSP00000338087.7:p.Glu65Lys | |
| ENST00000411653.6:c.193G>A | ENSP00000411326.3:p.Glu65Lys | |
| ENST00000414041.2:c.193G>A | ENSP00000412710.3:p.Glu65Lys | |
| ENST00000422328.6:c.193G>A | ENSP00000415892.3:p.Glu65Lys | |
| ENST00000438104.6:c.193G>A | ENSP00000388612.3:p.Glu65Lys | |
| ENST00000448866.7:c.193G>A MANE Select | ENSP00000402536.3:p.Glu65Lys | |
| ENST00000455353.6:c.193G>A | ENSP00000391567.3:p.Glu65Lys | |
| ENST00000458722.6:c.193G>A | ENSP00000411274.3:p.Glu65Lys | |
| ENST00000650822.1:c.196G>A | ENSP00000498517.1:p.Glu66Lys | |
| ENST00000652056.1:c.196G>A | ENSP00000498271.1:p.Glu66Lys | |
| ENST00000263552.10:c.196G>A | ENSP00000263552.6:p.Glu66Lys | |
| ENST00000336425.9:c.193G>A | ENSP00000338087.5:p.Glu65Lys | |
| ENST00000411653.5:c.193G>A | ENSP00000411326.1:p.Glu65Lys | |
| ENST00000414041.1:c.193G>A | ENSP00000412710.1:p.Glu65Lys | |
| ENST00000414508.6:c.196G>A | ENSP00000392702.2:p.Glu66Lys | |
| ENST00000416849.6:c.196G>A | ENSP00000389414.2:p.Glu66Lys | |
| ENST00000422328.5:c.193G>A | ENSP00000415892.1:p.Glu65Lys | |
| ENST00000425687.5:c.-9G>A | ENSP00000388736.1:n.-9G>A | |
| ENST00000438104.5:c.193G>A | ENSP00000388612.1:p.Glu65Lys | |
| ENST00000448866.5:c.193G>A | ENSP00000402536.1:p.Glu65Lys | |
| ENST00000455353.5:c.193G>A | ENSP00000391567.1:p.Glu65Lys | |
| ENST00000458722.5:c.193G>A | ENSP00000411274.1:p.Glu65Lys | |
| ENST00000462275.5:n.208-35631G>A | ||
| ENST00000476637.5:n.313G>A | ||
| ENST00000492560.6:n.335G>A | ||
| NM_001061.4:c.196G>A | NP_001052.2:p.Glu66Lys | |
| NM_001130966.2:c.196G>A , LRG_579t1:c.196G>A | NP_001124438.1:p.Glu66Lys | |
| NM_001166253.1:c.196G>A , LRG_579t4:c.196G>A | NP_001159725.1:p.Glu66Lys | |
| NM_001166254.1:c.-9G>A , LRG_579t3:c.-9G>A | NP_001159726.1:n.-9G>A | |
| NM_001314028.1:c.107G>A | NP_001300957.1:p.Gly36Glu | |
| NM_030984.3:c.196G>A , LRG_579t2:c.196G>A | NP_112246.2:p.Glu66Lys | |
| NR_029394.1:c.-4294966865G>A | ||
| XM_011516544.1:c.196G>A | XP_011514846.1:p.Glu66Lys | |
| NM_001061.5:c.193G>A | NP_001052.3:p.Glu65Lys | |
| NM_001130966.3:c.193G>A | NP_001124438.2:p.Glu65Lys | |
| NM_001166253.2:c.193G>A | NP_001159725.2:p.Glu65Lys | |
| NM_001166254.2:c.-9G>A | NP_001159726.1:n.-9G>A | |
| NM_001314028.2:c.107G>A | NP_001300957.1:p.Gly36Glu | |
| NM_001366537.1:c.107G>A | NP_001353466.1:p.Gly36Glu | |
| NM_001366538.1:c.193G>A | NP_001353467.1:p.Glu65Lys | |
| NM_030984.4:c.193G>A | NP_112246.3:p.Glu65Lys | |
| XM_011516544.3:c.196G>A | XP_011514846.1:p.Glu66Lys | |
| XM_017012570.2:c.196G>A | XP_016868059.1:p.Glu66Lys | |
| XM_017012571.2:c.196G>A | XP_016868060.1:p.Glu66Lys | |
| XM_017012572.2:c.196G>A | XP_016868061.1:p.Glu66Lys | |
| NM_001061.7:c.193G>A MANE Select | NP_001052.3:p.Glu65Lys | |
| NM_001130966.4:c.193G>A | NP_001124438.2:p.Glu65Lys | |
| NM_001166253.3:c.193G>A | NP_001159725.2:p.Glu65Lys | |
| NM_001166254.3:c.-9G>A | NP_001159726.1:n.-9G>A | |
| NM_001314028.3:c.107G>A | NP_001300957.1:p.Gly36Glu | |
| NM_001366537.2:c.107G>A | NP_001353466.1:p.Gly36Glu | |
| NM_001366538.2:c.193G>A | NP_001353467.1:p.Glu65Lys | |
| NM_030984.5:c.193G>A | NP_112246.3:p.Glu65Lys | |
| NM_001130966.5:c.193G>A | NP_001124438.2:p.Glu65Lys | |
| NM_001166253.4:c.193G>A | NP_001159725.2:p.Glu65Lys | |
| NM_001166254.4:c.-9G>A | NP_001159726.1:n.-9G>A | |
| NM_001314028.4:c.107G>A | NP_001300957.1:p.Gly36Glu | |
| NM_001366537.3:c.107G>A | NP_001353466.1:p.Gly36Glu | |
| NM_030984.6:c.193G>A | NP_112246.3:p.Glu65Lys |