Revel Score:
ENST00000296387 (MANE Select)
0.890
ENST00000539749
0.890
ENST00000372539
0.890
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00025677 (AMR)
Genomes Max Group AF
0.00005282 (AMR)
Exomes Max Group AF
0.00029518 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42740005C>T , CM000663.2:g.42740005C>T | GRCh38 |
| NC_000001.10:g.43205676C>T , CM000663.1:g.43205676C>T | GRCh37 |
| NC_000001.9:g.42978263C>T | NCBI36 |
| NG_008993.1:g.5250G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296387.6:c.59G>A MANE Select | ENSP00000296387.1:p.Gly20Asp | |
| ENST00000296387.5:c.59G>A | ENSP00000296387.1:p.Gly20Asp | |
| ENST00000372539.3:c.59G>A | ENSP00000361617.3:p.Gly20Asp | |
| ENST00000539749.5:c.59G>A | ENSP00000443229.1:p.Gly20Asp | |
| NM_001123395.1:c.59G>A | NP_001116867.1:p.Gly20Asp | |
| NM_001185117.1:c.59G>A | NP_001172046.1:p.Gly20Asp | |
| NM_148960.2:c.59G>A | NP_683763.2:p.Gly20Asp | |
| NM_001123395.2:c.59G>A | NP_001116867.1:p.Gly20Asp | |
| NM_148960.3:c.59G>A MANE Select | NP_683763.2:p.Gly20Asp | |
| NM_001185117.2:c.59G>A | NP_001172046.1:p.Gly20Asp |