Revel Score:
ENST00000413539
0.595
ENST00000409762
0.595
ENST00000409582
0.595
ENST00000429174
0.595
ENST00000258104 (MANE Plus Clinical)
0.595
ENST00000409651
0.595
ENST00000394120
0.595
ENST00000409744
0.595
ENST00000409366
0.595
ENST00000410020 (MANE Select)
0.595
ENST00000410041
0.595
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71669179G>A , CM000664.2:g.71669179G>A | GRCh38 |
| NC_000002.11:g.71896309G>A , CM000664.1:g.71896309G>A | GRCh37 |
| NC_000002.10:g.71749817G>A | NCBI36 |
| NG_008694.1:g.220557G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.3028G>A | ENSP00000513536.1:p.Glu1010Lys | |
| ENST00000698058.1:c.2245G>A | ENSP00000513537.1:p.Glu749Lys | |
| ENST00000698059.1:c.2353G>A | ENSP00000513538.1:p.Glu785Lys | |
| ENST00000258104.8:c.5497G>A MANE Plus Clinical | ENSP00000258104.3:p.Glu1833Lys | |
| ENST00000410020.8:c.5614G>A MANE Select | ENSP00000386881.3:p.Glu1872Lys | |
| ENST00000258104.7:c.5497G>A | ENSP00000258104.3:p.Glu1833Lys | |
| ENST00000394120.6:c.5500G>A | ENSP00000377678.2:p.Glu1834Lys | |
| ENST00000409366.5:c.5563G>A | ENSP00000386512.1:p.Glu1855Lys | |
| ENST00000409582.7:c.5611G>A | ENSP00000386547.3:p.Glu1871Lys | |
| ENST00000409651.5:c.5593G>A | ENSP00000386683.1:p.Glu1865Lys | |
| ENST00000409744.5:c.5521G>A | ENSP00000386285.1:p.Glu1841Lys | |
| ENST00000409762.5:c.5548G>A | ENSP00000387137.1:p.Glu1850Lys | |
| ENST00000410020.7:c.5614G>A | ENSP00000386881.3:p.Glu1872Lys | |
| ENST00000410041.1:c.5551G>A | ENSP00000386617.1:p.Glu1851Lys | |
| ENST00000413539.6:c.5590G>A | ENSP00000407046.2:p.Glu1864Lys | |
| ENST00000429174.6:c.5560G>A | ENSP00000398305.2:p.Glu1854Lys | |
| ENST00000479049.6:n.2382G>A | ||
| NM_001130455.1:c.5500G>A | NP_001123927.1:p.Glu1834Lys | |
| NM_001130976.1:c.5455G>A | NP_001124448.1:p.Glu1819Lys | |
| NM_001130977.1:c.5518G>A | NP_001124449.1:p.Glu1840Lys | |
| NM_001130978.1:c.5560G>A | NP_001124450.1:p.Glu1854Lys | |
| NM_001130979.1:c.5590G>A | NP_001124451.1:p.Glu1864Lys | |
| NM_001130980.1:c.5548G>A | NP_001124452.1:p.Glu1850Lys | |
| NM_001130981.1:c.5611G>A | NP_001124453.1:p.Glu1871Lys | |
| NM_001130982.1:c.5593G>A | NP_001124454.1:p.Glu1865Lys | |
| NM_001130983.1:c.5563G>A | NP_001124455.1:p.Glu1855Lys | |
| NM_001130984.1:c.5521G>A | NP_001124456.1:p.Glu1841Lys | |
| NM_001130985.1:c.5551G>A | NP_001124457.1:p.Glu1851Lys | |
| NM_001130986.1:c.5458G>A | NP_001124458.1:p.Glu1820Lys | |
| NM_001130987.1:c.5614G>A | NP_001124459.1:p.Glu1872Lys | |
| NM_003494.3:c.5497G>A | NP_003485.1:p.Glu1833Lys | |
| XM_005264584.3:c.5656G>A | XP_005264641.1:p.Glu1886Lys | |
| XM_005264585.3:c.5653G>A | XP_005264642.1:p.Glu1885Lys | |
| XM_005264584.4:c.5656G>A | XP_005264641.1:p.Glu1886Lys | |
| XM_005264585.5:c.5653G>A | XP_005264642.1:p.Glu1885Lys | |
| NM_001130987.2:c.5614G>A MANE Select | NP_001124459.1:p.Glu1872Lys | |
| NM_001130455.2:c.5500G>A | NP_001123927.1:p.Glu1834Lys | |
| NM_001130976.2:c.5455G>A | NP_001124448.1:p.Glu1819Lys | |
| NM_001130977.2:c.5518G>A | NP_001124449.1:p.Glu1840Lys | |
| NM_001130978.2:c.5560G>A | NP_001124450.1:p.Glu1854Lys | |
| NM_001130979.2:c.5590G>A | NP_001124451.1:p.Glu1864Lys | |
| NM_001130980.2:c.5548G>A | NP_001124452.1:p.Glu1850Lys | |
| NM_001130981.2:c.5611G>A | NP_001124453.1:p.Glu1871Lys | |
| NM_001130982.2:c.5593G>A | NP_001124454.1:p.Glu1865Lys | |
| NM_001130983.2:c.5563G>A | NP_001124455.1:p.Glu1855Lys | |
| NM_001130984.2:c.5521G>A | NP_001124456.1:p.Glu1841Lys | |
| NM_001130985.2:c.5551G>A | NP_001124457.1:p.Glu1851Lys | |
| NM_001130986.2:c.5458G>A | NP_001124458.1:p.Glu1820Lys | |
| NM_003494.4:c.5497G>A MANE Plus Clinical | NP_003485.1:p.Glu1833Lys |