COSMIC:
COSM5020585
COSM5020586
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.03024683 (AMR)
Genomes Max Group AF
0.02333506 (AMR)
Exomes Max Group AF
0.0324189 (AMR)
Revel Score:
ENST00000360608
0.933
ENST00000389970
0.933
ENST00000413640
0.933
ENST00000359033
0.933
ENST00000542856
0.933
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126722G>T , CM000684.2:g.42126722G>T | GRCh38 |
| NC_000022.10:g.42522724G>T , CM000684.1:g.42522724G>T | GRCh37 |
| NC_000022.9:g.40852668G>T | NCBI36 |
| NG_008376.3:g.8270C>A | |
| NG_008376.4:g.9089C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.1144C>A | ENSP00000353241.6:n.1144C>A | |
| ENST00000645361.2:c.1346C>A MANE Select | ENSP00000496150.1:p.Ala449Asp | |
| ENST00000359033.4:c.1193C>A | ENSP00000351927.4:p.Ala398Asp | |
| ENST00000360124.9:c.964C>A | ENSP00000353241.5:n.964C>A | |
| ENST00000360608.9:c.1346C>A | ENSP00000353820.5:p.Ala449Asp | |
| ENST00000389970.7:c.1337C>A | ENSP00000374620.4:p.Ala446Asp | |
| ENST00000488442.1:n.2070C>A | ||
| NM_000106.5:c.1346C>A | NP_000097.3:p.Ala449Asp | |
| NM_001025161.2:c.1193C>A | NP_001020332.2:p.Ala398Asp | |
| XM_011529966.1:c.1346C>A | XP_011528268.1:p.Ala449Asp | |
| XM_011529967.1:c.1346C>A | XP_011528269.1:p.Ala449Asp | |
| XM_011529968.1:c.1346C>A | XP_011528270.1:p.Ala449Asp | |
| XM_011529969.1:c.1202C>A | XP_011528271.1:p.Ala401Asp | |
| XM_011529970.1:c.1193C>A | XP_011528272.1:p.Ala398Asp | |
| XM_011529971.1:c.1202C>A | XP_011528273.1:p.Ala401Asp | |
| NM_000106.6:c.1346C>A MANE Select | NP_000097.3:p.Ala449Asp | |
| NM_001025161.3:c.1193C>A | NP_001020332.2:p.Ala398Asp |