Revel Score:
ENST00000502755
0.203
ENST00000296682 (MANE Select)
0.203
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.23509036G>A , CM000667.2:g.23509036G>A | GRCh38 |
| NC_000005.9:g.23509145G>A , CM000667.1:g.23509145G>A | GRCh37 |
| NC_000005.8:g.23544902G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502755.6:c.3G>A | ENSP00000425471.2:p.Met1Ile | |
| ENST00000296682.4:c.3G>A MANE Select | ENSP00000296682.4:p.Met1Ile | |
| ENST00000296682.3:c.3G>A | ENSP00000296682.3:p.Met1Ile | |
| ENST00000502755.5:c.3G>A | ENSP00000425471.1:p.Met1Ile | |
| ENST00000635252.1:c.17-884G>A | ENSP00000489227.1:n.17-884G>A | |
| NM_020227.2:c.3G>A | NP_064612.2:p.Met1Ile | |
| NM_020227.3:c.3G>A | NP_064612.2:p.Met1Ile | |
| NM_001376900.1:c.3G>A | NP_001363829.1:p.Met1Ile | |
| NM_020227.4:c.3G>A MANE Select | NP_064612.2:p.Met1Ile |