Linked Data
ClinVar Variation Id:
417757
dbSNP Id:
rs767689418
gnomAD v4:
19-7467400-G-T
PubMed:
PMID:28132693
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7467400G>T , CM000681.2:g.7467400G>T | GRCh38 |
| NC_000019.9:g.7532286G>T , CM000681.1:g.7532286G>T | GRCh37 |
| NC_000019.8:g.7438286G>T | NCBI36 |
| NG_047135.1:g.123490G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319670.14:c.2155G>T | ENSP00000319200.8:p.Glu719Ter | |
| ENST00000359920.11:c.2470G>T | ENSP00000352995.5:p.Glu824Ter | |
| ENST00000594665.2:c.2158G>T | ENSP00000470729.2:p.Glu720Ter | |
| ENST00000617428.4:c.2158G>T | ENSP00000482647.4:p.Glu720Ter | |
| ENST00000668164.2:c.3196G>T MANE Select | ENSP00000499655.2:p.Glu1066Ter | |
| ENST00000319670.13:c.2158G>T | ENSP00000319200.7:p.Glu720Ter | |
| ENST00000359920.10:c.2632G>T | ENSP00000352995.4:p.Glu878Ter | |
| ENST00000594665.1:c.1547G>T | ||
| ENST00000617428.2:c.2432G>T | ||
| NM_001130955.1:c.2632G>T | NP_001124427.1:p.Glu878Ter | |
| NM_015318.3:c.2158G>T | NP_056133.2:p.Glu720Ter | |
| XM_005272464.3:c.3391G>T | XP_005272521.1:p.Glu1131Ter | |
| XM_006722705.2:c.3196G>T | XP_006722768.1:p.Glu1066Ter | |
| XM_006722706.2:c.3196G>T | XP_006722769.1:p.Glu1066Ter | |
| XM_006722708.2:c.2158G>T | XP_006722771.1:p.Glu720Ter | |
| XM_006722709.2:c.2158G>T | XP_006722772.1:p.Glu720Ter | |
| XM_011527835.1:c.3391G>T | XP_011526137.1:p.Glu1131Ter | |
| XM_011527836.1:c.3391G>T | XP_011526138.1:p.Glu1131Ter | |
| XM_011527837.1:c.3391G>T | XP_011526139.1:p.Glu1131Ter | |
| XM_011527838.1:c.3196G>T | XP_011526140.1:p.Glu1066Ter | |
| XM_011527839.1:c.3148G>T | XP_011526141.1:p.Glu1050Ter | |
| XM_011527840.1:c.2158G>T | XP_011526142.1:p.Glu720Ter | |
| XM_005272464.4:c.3391G>T | XP_005272521.1:p.Glu1131Ter | |
| XM_006722705.3:c.3196G>T | XP_006722768.1:p.Glu1066Ter | |
| XM_006722706.3:c.3196G>T | XP_006722769.1:p.Glu1066Ter | |
| XM_011527835.2:c.3391G>T | XP_011526137.1:p.Glu1131Ter | |
| XM_011527836.2:c.3391G>T | XP_011526138.1:p.Glu1131Ter | |
| XM_011527837.2:c.3391G>T | XP_011526139.1:p.Glu1131Ter | |
| XM_011527838.3:c.3196G>T | XP_011526140.1:p.Glu1066Ter | |
| XM_011527839.2:c.3148G>T | XP_011526141.1:p.Glu1050Ter | |
| XM_011527840.2:c.2158G>T | XP_011526142.1:p.Glu720Ter | |
| NM_001130955.2:c.2470G>T | NP_001124427.2:p.Glu824Ter | |
| NM_001367823.1:c.3196G>T MANE Select | NP_001354752.1:p.Glu1066Ter | |
| NM_001367824.1:c.2158G>T | NP_001354753.1:p.Glu720Ter | |
| NM_015318.4:c.2158G>T | NP_056133.2:p.Glu720Ter |