Revel Score:
ENST00000350896
0.507
ENST00000262101 (MANE Select)
0.507
ENST00000445506
0.507
ENST00000355282
0.507
ENST00000381998
0.507
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02110286 (AFR)
Genomes Max Group AF
0.02038516 (AFR)
Exomes Max Group AF
0.02118901 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16168568C>A , CM000670.2:g.16168568C>A | GRCh38 |
| NC_000008.10:g.16026077C>A , CM000670.1:g.16026077C>A | GRCh37 |
| NC_000008.9:g.16070448C>A | NCBI36 |
| NG_012102.1:g.29224G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262101.10:c.520G>T MANE Select | ENSP00000262101.5:p.Asp174Tyr | |
| ENST00000262101.9:c.520G>T | ENSP00000262101.5:p.Asp174Tyr | |
| ENST00000350896.3:c.520G>T | ENSP00000262100.3:p.Asp174Tyr | |
| ENST00000355282.6:c.520G>T | ENSP00000347430.2:p.Asp174Tyr | |
| ENST00000381998.8:c.520G>T | ENSP00000371428.4:p.Asp174Tyr | |
| ENST00000445506.6:c.574G>T | ENSP00000405453.2:p.Asp192Tyr | |
| ENST00000519060.6:c.104-4317G>T | ENSP00000428865.1:n.104-4317G>T | |
| NM_002445.3:c.520G>T | NP_002436.1:p.Asp174Tyr | |
| NM_138715.2:c.520G>T | NP_619729.1:p.Asp174Tyr | |
| NM_138716.2:c.520G>T | NP_619730.1:p.Asp174Tyr | |
| NM_001363744.1:c.574G>T | NP_001350673.1:p.Asp192Tyr | |
| XM_024447161.1:c.574G>T | XP_024302929.1:p.Asp192Tyr | |
| NM_138715.3:c.520G>T MANE Select | NP_619729.1:p.Asp174Tyr | |
| NM_002445.4:c.520G>T | NP_002436.1:p.Asp174Tyr | |
| NM_138716.3:c.520G>T | NP_619730.1:p.Asp174Tyr |