Linked Data
ClinVar Variation Id:
438140
ClinVar RCV Id:
RCV000504699
dbSNP Id:
rs1555962965
gnomAD v4:
X-38291470-C-A
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38291470C>A , CM000685.2:g.38291470C>A | GRCh38 |
| NC_000023.10:g.38150723C>A , CM000685.1:g.38150723C>A | GRCh37 |
| NC_000023.9:g.38035667C>A | NCBI36 |
| NG_009553.1:g.41066G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494707.6:c.633G>T | ||
| ENST00000642170.1:n.1683G>T | ||
| ENST00000642395.2:c.1429G>T | ENSP00000493468.2:p.Glu477Ter | |
| ENST00000642739.1:c.1429G>T | ENSP00000493596.1:p.Glu477Ter | |
| ENST00000644238.1:c.1243G>T | ENSP00000496728.1:p.Glu415Ter | |
| ENST00000644337.1:c.1243G>T | ENSP00000494557.1:p.Glu415Ter | |
| ENST00000645032.1:c.1429G>T MANE Select | ENSP00000495537.1:p.Glu477Ter | |
| ENST00000645124.1:c.1429G>T | ENSP00000496446.1:p.Glu477Ter | |
| ENST00000646020.1:c.*122G>T | ENSP00000494745.1:n.*122G>T | |
| ENST00000318842.11:c.1429G>T | ENSP00000322219.6:p.Glu477Ter | |
| ENST00000339363.7:c.1429G>T | ENSP00000343671.3:p.Glu477Ter | |
| ENST00000378505.6:c.1429G>T | ENSP00000367766.2:p.Glu477Ter | |
| ENST00000465127.1:c.172-374651C>A | ENSP00000417050.1:n.172-374651C>A | |
| ENST00000474584.5:c.1415-446G>T | ENSP00000418926.1:n.1415-446G>T | |
| ENST00000482855.5:c.1429G>T | ENSP00000419276.1:p.Glu477Ter | |
| NM_000328.2:c.1429G>T | NP_000319.1:p.Glu477Ter | |
| NM_001034853.1:c.1429G>T | NP_001030025.1:p.Glu477Ter | |
| XM_005272633.1:c.1429G>T | XP_005272690.1:p.Glu477Ter | |
| XM_011543940.1:c.1426G>T | XP_011542242.1:p.Glu476Ter | |
| XM_005272633.3:c.1429G>T | XP_005272690.1:p.Glu477Ter | |
| XM_011543940.3:c.1426G>T | XP_011542242.1:p.Glu476Ter | |
| XM_017029712.2:c.1426G>T | XP_016885201.1:p.Glu476Ter | |
| NM_001367245.1:c.1426G>T | NP_001354174.1:p.Glu476Ter | |
| NM_001367246.1:c.1243G>T | NP_001354175.1:p.Glu415Ter | |
| NM_001367247.1:c.1429G>T | NP_001354176.1:p.Glu477Ter | |
| NM_001367248.1:c.1459G>T | NP_001354177.1:p.Glu487Ter | |
| NM_001367249.1:c.1426G>T | NP_001354178.1:p.Glu476Ter | |
| NM_001367250.1:c.1426G>T | NP_001354179.1:p.Glu476Ter | |
| NM_001367251.1:c.1243G>T | NP_001354180.1:p.Glu415Ter | |
| NR_159803.1:n.1791G>T | ||
| NR_159804.1:n.1505G>T | ||
| NR_159805.1:n.1571G>T | ||
| NR_159806.1:n.1571G>T | ||
| NR_159807.1:n.1557-446G>T | ||
| NR_159808.1:n.1683G>T | ||
| NM_000328.3:c.1429G>T | NP_000319.1:p.Glu477Ter | |
| NM_001034853.2:c.1429G>T MANE Select | NP_001030025.1:p.Glu477Ter |