Linked Data
ClinVar Variation Id:
438069
dbSNP Id:
rs369775002
gnomAD v2:
1-197390141-G-T
gnomAD v3:
1-197421011-G-T
gnomAD v4:
1-197421011-G-T
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197421011G>T , CM000663.2:g.197421011G>T | GRCh38 |
| NC_000001.10:g.197390141G>T , CM000663.1:g.197390141G>T | GRCh37 |
| NC_000001.9:g.195656764G>T | NCBI36 |
| NG_008483.1:g.157734G>T | |
| NG_008483.2:g.224550G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.1183G>T MANE Select | ENSP00000356370.3:p.Glu395Ter | |
| ENST00000638467.1:c.1183G>T | ENSP00000491102.1:p.Glu395Ter | |
| ENST00000681519.1:c.64G>T | ENSP00000505267.1:p.Glu22Ter | |
| ENST00000367397.1:c.-675G>T | ENSP00000356367.1:n.-675G>T | |
| ENST00000367399.6:c.847G>T | ENSP00000356369.2:p.Glu283Ter | |
| ENST00000367400.7:c.1183G>T | ENSP00000356370.3:p.Glu395Ter | |
| ENST00000476483.1:n.143G>T | ||
| ENST00000484075.5:c.1183G>T | ENSP00000433932.1:p.Glu395Ter | |
| ENST00000535699.5:c.976G>T | ENSP00000438786.1:p.Glu326Ter | |
| ENST00000538660.5:c.1183G>T | ENSP00000438091.1:p.Glu395Ter | |
| NM_001193640.1:c.847G>T | NP_001180569.1:p.Glu283Ter | |
| NM_001257965.1:c.976G>T | NP_001244894.1:p.Glu326Ter | |
| NM_001257966.1:c.1183G>T | NP_001244895.1:p.Glu395Ter | |
| NM_201253.2:c.1183G>T | NP_957705.1:p.Glu395Ter | |
| NR_047563.1:n.1392G>T | ||
| NR_047564.1:n.1392G>T | ||
| XM_011509365.1:c.1183G>T | XP_011507667.1:p.Glu395Ter | |
| XM_011509366.1:c.1183G>T | XP_011507668.1:p.Glu395Ter | |
| XM_011509367.1:c.1183G>T | XP_011507669.1:p.Glu395Ter | |
| XM_011509368.1:c.601G>T | XP_011507670.1:p.Glu201Ter | |
| XM_011509369.1:c.-375G>T | XP_011507671.1:n.-375G>T | |
| XM_011509365.2:c.1183G>T | XP_011507667.1:p.Glu395Ter | |
| XM_011509369.2:c.-375G>T | XP_011507671.1:n.-375G>T | |
| XM_017000851.1:c.340G>T | XP_016856340.1:p.Glu114Ter | |
| XM_017000852.1:c.1183G>T | XP_016856341.1:p.Glu395Ter | |
| NM_201253.3:c.1183G>T MANE Select | NP_957705.1:p.Glu395Ter | |
| NM_001193640.2:c.847G>T | NP_001180569.1:p.Glu283Ter | |
| NM_001257965.2:c.976G>T | NP_001244894.1:p.Glu326Ter | |
| NR_047563.2:n.1344G>T | ||
| NR_047564.2:n.1344G>T | ||
| NM_001257966.2:c.1183G>T | NP_001244895.1:p.Glu395Ter |