ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000262554 (MANE Select)
0.401
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92047181C>G , CM000671.2:g.92047181C>G | GRCh38 |
| NC_000009.11:g.94809463C>G , CM000671.1:g.94809463C>G | GRCh37 |
| NC_000009.10:g.93849284C>G | NCBI36 |
| NG_007950.1:g.73228G>C , LRG_272:g.73228G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482632.6:n.1482G>C | ||
| ENST00000686600.1:c.1072G>C | ENSP00000509268.1:p.Glu358Gln | |
| ENST00000686799.1:n.1169G>C | ||
| ENST00000687427.1:c.1072G>C | ENSP00000509426.1:p.Glu358Gln | |
| ENST00000687817.1:c.*1219G>C | ENSP00000508926.1:n.*1219G>C | |
| ENST00000687972.1:c.1132G>C | ENSP00000509208.1:p.Glu378Gln | |
| ENST00000689261.1:n.979G>C | ||
| ENST00000689401.1:c.*1322G>C | ENSP00000510251.1:n.*1322G>C | |
| ENST00000689423.1:c.*1322G>C | ENSP00000508519.1:n.*1322G>C | |
| ENST00000690095.1:n.1400G>C | ||
| ENST00000690139.1:c.*773G>C | ENSP00000510483.1:n.*773G>C | |
| ENST00000692458.1:n.1439G>C | ||
| ENST00000693147.1:c.*1088G>C | ENSP00000510358.1:n.*1088G>C | |
| ENST00000262554.7:c.1072G>C MANE Select | ENSP00000262554.2:p.Glu358Gln | |
| ENST00000642671.1:c.1313G>C | ENSP00000495764.1:n.1313G>C | |
| ENST00000643599.1:c.1140G>C | ENSP00000494770.1:n.1140G>C | |
| ENST00000644140.1:c.*813G>C | ENSP00000493933.1:n.*813G>C | |
| ENST00000646481.1:c.944G>C | ENSP00000496627.1:n.944G>C | |
| ENST00000646534.1:c.*875G>C | ENSP00000495388.1:n.*875G>C | |
| ENST00000262554.6:c.1072G>C | ENSP00000262554.2:p.Glu358Gln | |
| NM_001281303.1:c.1072G>C | NP_001268232.1:p.Glu358Gln | |
| NM_006415.3:c.1072G>C | NP_006406.1:p.Glu358Gln | |
| XM_011518138.1:c.1072G>C | XP_011516440.1:p.Glu358Gln | |
| XM_011518139.1:c.607G>C | XP_011516441.1:p.Glu203Gln | |
| XM_011518138.2:c.1072G>C | XP_011516440.1:p.Glu358Gln | |
| XM_011518139.3:c.607G>C | XP_011516441.1:p.Glu203Gln | |
| XM_017014200.2:c.706G>C | XP_016869689.1:p.Glu236Gln | |
| XM_017014201.2:c.706G>C | XP_016869690.1:p.Glu236Gln | |
| XM_024447378.1:c.607G>C | XP_024303146.1:p.Glu203Gln | |
| XM_024447379.1:c.607G>C | XP_024303147.1:p.Glu203Gln | |
| XR_002956744.1:n.1222G>C | ||
| NM_006415.4:c.1072G>C MANE Select | NP_006406.1:p.Glu358Gln | |
| NM_001281303.2:c.1072G>C | NP_001268232.1:p.Glu358Gln | |
| NM_001368272.1:c.706G>C | NP_001355201.1:p.Glu236Gln | |
| NM_001368273.1:c.607G>C | NP_001355202.1:p.Glu203Gln |