Revel Score:
ENST00000260630
0.967
ENST00000407341
0.967
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38070958C>T , CM000664.2:g.38070958C>T | GRCh38 |
| NC_000002.11:g.38298101C>T , CM000664.1:g.38298101C>T | GRCh37 |
| NC_000002.10:g.38151605C>T | NCBI36 |
| NG_008386.2:g.10144G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.1396G>A | ENSP00000478839.2:p.Gly466Ser | |
| ENST00000610745.5:c.1396G>A MANE Select | ENSP00000478561.1:p.Gly466Ser | |
| ENST00000494864.1:c.283G>A | ENSP00000479876.1:p.Gly95Ser | |
| ENST00000610745.4:c.1396G>A | ENSP00000478561.1:p.Gly466Ser | |
| ENST00000614273.1:c.1396G>A | ENSP00000483678.1:p.Gly466Ser | |
| NM_000104.3:c.1396G>A | NP_000095.2:p.Gly466Ser | |
| NM_000104.4:c.1396G>A MANE Select | NP_000095.2:p.Gly466Ser |