ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.111119909C>A , CM000663.2:g.111119909C>A | GRCh38 |
| NC_000001.10:g.111662531C>A , CM000663.1:g.111662531C>A | GRCh37 |
| NC_000001.9:g.111464054C>A | NCBI36 |
| NG_053089.1:g.25308G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000484310.6:c.568G>T MANE Select | ENSP00000503400.1:p.Glu190Ter | |
| ENST00000539140.6:c.568G>T | ENSP00000437718.1:p.Glu190Ter | |
| ENST00000286692.8:c.568G>T | ENSP00000286692.4:p.Glu190Ter | |
| ENST00000461449.5:n.342G>T | ||
| ENST00000477588.5:n.132G>T | ||
| ENST00000477769.1:n.136G>T | ||
| ENST00000484310.5:n.812G>T | ||
| ENST00000496430.6:c.*255G>T | ENSP00000473779.1:n.*255G>T | |
| ENST00000539140.5:c.568G>T | ENSP00000437718.1:p.Glu190Ter | |
| NM_178454.4:c.568G>T | NP_848549.3:p.Glu190Ter | |
| XM_005270469.1:c.568G>T | XP_005270526.1:p.Glu190Ter | |
| XM_005270470.1:c.568G>T | XP_005270527.1:p.Glu190Ter | |
| XM_006710361.1:c.298G>T | XP_006710424.1:p.Glu100Ter | |
| XM_006710362.1:c.298G>T | XP_006710425.1:p.Glu100Ter | |
| XM_011540707.1:c.568G>T | XP_011539009.1:p.Glu190Ter | |
| XM_011540708.1:c.568G>T | XP_011539010.1:p.Glu190Ter | |
| NM_001349881.1:c.568G>T | NP_001336810.1:p.Glu190Ter | |
| NM_001349882.1:c.568G>T | NP_001336811.1:p.Glu190Ter | |
| NM_001349884.1:c.568G>T | NP_001336813.1:p.Glu190Ter | |
| NM_001349885.1:c.568G>T | NP_001336814.1:p.Glu190Ter | |
| NM_001349886.1:c.298G>T | NP_001336815.1:p.Glu100Ter | |
| NM_001349887.1:c.298G>T | NP_001336816.1:p.Glu100Ter | |
| NM_001349888.1:c.298G>T | NP_001336817.1:p.Glu100Ter | |
| NM_001349889.1:c.178G>T | NP_001336818.1:p.Glu60Ter | |
| NM_001349890.1:c.178G>T | NP_001336819.1:p.Glu60Ter | |
| NM_001349891.1:c.178G>T | NP_001336820.1:p.Glu60Ter | |
| NM_001349892.1:c.178G>T | NP_001336821.1:p.Glu60Ter | |
| NM_001349893.1:c.178G>T | NP_001336822.1:p.Glu60Ter | |
| NM_178454.5:c.568G>T | NP_848549.3:p.Glu190Ter | |
| NR_146301.1:n.809G>T | ||
| NR_146302.1:n.669G>T | ||
| NR_146303.1:n.1020G>T | ||
| NR_146304.1:n.880G>T | ||
| NR_146305.1:n.863G>T | ||
| NR_146306.1:n.835G>T | ||
| NR_146307.1:n.908G>T | ||
| NR_146308.1:n.975G>T | ||
| NM_001349881.2:c.568G>T | NP_001336810.1:p.Glu190Ter | |
| NM_001349882.2:c.568G>T | NP_001336811.1:p.Glu190Ter | |
| NM_001349884.2:c.568G>T MANE Select | NP_001336813.1:p.Glu190Ter | |
| NM_001349885.2:c.568G>T | NP_001336814.1:p.Glu190Ter | |
| NM_001349886.2:c.298G>T | NP_001336815.1:p.Glu100Ter | |
| NM_001349887.2:c.298G>T | NP_001336816.1:p.Glu100Ter | |
| NM_001349888.2:c.298G>T | NP_001336817.1:p.Glu100Ter | |
| NM_001349889.2:c.178G>T | NP_001336818.1:p.Glu60Ter | |
| NM_001349890.2:c.178G>T | NP_001336819.1:p.Glu60Ter | |
| NM_001349891.2:c.178G>T | NP_001336820.1:p.Glu60Ter | |
| NM_001349892.2:c.178G>T | NP_001336821.1:p.Glu60Ter | |
| NM_001349893.2:c.178G>T | NP_001336822.1:p.Glu60Ter | |
| NM_178454.6:c.568G>T | NP_848549.3:p.Glu190Ter | |
| NR_146301.2:n.686G>T | ||
| NR_146302.2:n.546G>T | ||
| NR_146303.2:n.897G>T | ||
| NR_146304.2:n.757G>T | ||
| NR_146305.2:n.740G>T | ||
| NR_146306.2:n.712G>T | ||
| NR_146307.2:n.785G>T | ||
| NR_146308.2:n.852G>T |