ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Revel Score:
ENST00000454575
0.444
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.62457653C>A , CM000663.2:g.62457653C>A | GRCh38 |
| NC_000001.10:g.62923324C>A , CM000663.1:g.62923324C>A | GRCh37 |
| NC_000001.9:g.62695912C>A | NCBI36 |
| NG_033073.1:g.235716G>T | |
| NG_033073.2:g.235716G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634495.2:n.2406G>T | ||
| ENST00000635253.2:c.6265G>T MANE Select | ENSP00000489124.1:p.Glu2089Ter | |
| ENST00000635983.1:n.5944G>T | ||
| ENST00000637255.1:c.3532G>T | ENSP00000490888.1:p.Glu1178Ter | |
| ENST00000251157.10:c.6238G>T | ENSP00000251157.6:p.Glu2080Ter | |
| ENST00000340370.10:c.6172G>T | ENSP00000340742.5:p.Glu2058Ter | |
| ENST00000454575.6:c.6232G>T | ENSP00000413583.2:p.Glu2078Ter | |
| ENST00000634264.1:c.6145G>T | ENSP00000489284.1:p.Glu2049Ter | |
| ENST00000634495.1:n.951G>T | ||
| ENST00000635123.1:c.6139G>T | ENSP00000489499.1:p.Glu2047Ter | |
| ENST00000635253.1:c.6265G>T | ENSP00000489124.1:p.Glu2089Ter | |
| ENST00000635348.1:n.1547G>T | ||
| NM_001271999.1:c.6232G>T | NP_001258928.1:p.Glu2078Ter | |
| NM_001272000.1:c.6145G>T | NP_001258929.1:p.Glu2049Ter | |
| NM_001272001.1:c.6139G>T | NP_001258930.1:p.Glu2047Ter | |
| NM_033407.3:c.6172G>T | NP_212132.2:p.Glu2058Ter | |
| XM_005271292.1:c.6238G>T | XP_005271349.1:p.Glu2080Ter | |
| XM_011542326.1:c.6265G>T | XP_011540628.1:p.Glu2089Ter | |
| XM_011542327.1:c.6259G>T | XP_011540629.1:p.Glu2087Ter | |
| XM_011542328.1:c.6250G>T | XP_011540630.1:p.Glu2084Ter | |
| NM_001330614.1:c.6238G>T | NP_001317543.1:p.Glu2080Ter | |
| XM_011542326.2:c.6265G>T | XP_011540628.1:p.Glu2089Ter | |
| XM_011542327.2:c.6259G>T | XP_011540629.1:p.Glu2087Ter | |
| XM_011542328.2:c.6250G>T | XP_011540630.1:p.Glu2084Ter | |
| XM_017002639.1:c.6166G>T | XP_016858128.1:p.Glu2056Ter | |
| NM_001367561.1:c.6265G>T MANE Select | NP_001354490.1:p.Glu2089Ter | |
| NM_001271999.2:c.6232G>T | NP_001258928.1:p.Glu2078Ter | |
| NM_001272000.2:c.6145G>T | NP_001258929.1:p.Glu2049Ter | |
| NM_001272001.2:c.6139G>T | NP_001258930.1:p.Glu2047Ter | |
| NM_001330614.2:c.6238G>T | NP_001317543.1:p.Glu2080Ter | |
| NM_033407.4:c.6172G>T | NP_212132.2:p.Glu2058Ter |