Revel Score:
ENST00000381178
0.744
ENST00000381175
0.744
ENST00000352909 (MANE Select)
0.744
ENST00000333684
0.744
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005996 (NFE)
Genomes Max Group AF
0.00001973 (NFE)
Exomes Max Group AF
0.00006014 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2164327T>C , CM000673.2:g.2164327T>C | GRCh38 |
| NC_000011.9:g.2185557T>C , CM000673.1:g.2185557T>C | GRCh37 |
| NC_000011.8:g.2142133T>C | NCBI36 |
| NG_007114.1:g.1868A>G | |
| NG_008128.1:g.12479A>G | |
| NG_050578.1:g.1883A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.1400A>G MANE Select | ENSP00000325951.4:p.Asp467Gly | |
| ENST00000333684.9:c.1118A>G | ENSP00000328814.6:p.Asp373Gly | |
| ENST00000352909.7:c.1400A>G | ENSP00000325951.3:p.Asp467Gly | |
| ENST00000381175.5:c.1481A>G | ENSP00000370567.1:p.Asp494Gly | |
| ENST00000381178.5:c.1493A>G | ENSP00000370571.1:p.Asp498Gly | |
| NM_000360.3:c.1400A>G | NP_000351.2:p.Asp467Gly | |
| NM_199292.2:c.1493A>G | NP_954986.2:p.Asp498Gly | |
| NM_199293.2:c.1481A>G | NP_954987.2:p.Asp494Gly | |
| XM_011520335.1:c.1412A>G | XP_011518637.1:p.Asp471Gly | |
| XM_011520335.2:c.1412A>G | XP_011518637.1:p.Asp471Gly | |
| NM_000360.4:c.1400A>G MANE Select | NP_000351.2:p.Asp467Gly | |
| NM_199292.3:c.1493A>G | NP_954986.2:p.Asp498Gly | |
| NM_199293.3:c.1481A>G | NP_954987.2:p.Asp494Gly |