Revel Score:
ENST00000260630
0.127
ENST00000407341
0.127
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002255 (AMR)
Genomes Max Group AF
0.00002262 (AMR)
Exomes Max Group AF
0.00000741 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38070852G>T , CM000664.2:g.38070852G>T | GRCh38 |
| NC_000002.11:g.38297995G>T , CM000664.1:g.38297995G>T | GRCh37 |
| NC_000002.10:g.38151499G>T | NCBI36 |
| NG_008386.2:g.10250C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.1502C>A | ENSP00000478839.2:p.Ala501Glu | |
| ENST00000610745.5:c.1502C>A MANE Select | ENSP00000478561.1:p.Ala501Glu | |
| ENST00000494864.1:c.389C>A | ENSP00000479876.1:p.Ala130Glu | |
| ENST00000610745.4:c.1502C>A | ENSP00000478561.1:p.Ala501Glu | |
| ENST00000614273.1:c.1502C>A | ENSP00000483678.1:p.Ala501Glu | |
| NM_000104.3:c.1502C>A | NP_000095.2:p.Ala501Glu | |
| NM_000104.4:c.1502C>A MANE Select | NP_000095.2:p.Ala501Glu |