Revel Score:
ENST00000260630
0.090
ENST00000407341
0.090
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001426 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38070852G>A , CM000664.2:g.38070852G>A | GRCh38 |
| NC_000002.11:g.38297995G>A , CM000664.1:g.38297995G>A | GRCh37 |
| NC_000002.10:g.38151499G>A | NCBI36 |
| NG_008386.2:g.10250C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.1502C>T | ENSP00000478839.2:p.Ala501Val | |
| ENST00000610745.5:c.1502C>T MANE Select | ENSP00000478561.1:p.Ala501Val | |
| ENST00000494864.1:c.389C>T | ENSP00000479876.1:p.Ala130Val | |
| ENST00000610745.4:c.1502C>T | ENSP00000478561.1:p.Ala501Val | |
| ENST00000614273.1:c.1502C>T | ENSP00000483678.1:p.Ala501Val | |
| NM_000104.3:c.1502C>T | NP_000095.2:p.Ala501Val | |
| NM_000104.4:c.1502C>T MANE Select | NP_000095.2:p.Ala501Val |