Revel Score:
ENST00000451994
0.356
ENST00000242776 (MANE Select)
0.356
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00059042 (AFR)
Genomes Max Group AF
0.0005815 (AFR)
Exomes Max Group AF
0.00046942 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.14409567C>T , CM000681.2:g.14409567C>T | GRCh38 |
| NC_000019.9:g.14520379C>T , CM000681.1:g.14520379C>T | GRCh37 |
| NC_000019.8:g.14381379C>T | NCBI36 |
| NG_029055.1:g.14817G>A | |
| NG_029253.1:g.33424C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242776.9:c.943G>A MANE Select | ENSP00000242776.3:p.Ala315Thr | |
| ENST00000242776.8:c.943G>A | ENSP00000242776.3:p.Ala315Thr | |
| ENST00000324340.13:c.865-120G>A | ENSP00000322749.8:n.865-120G>A | |
| ENST00000587730.5:n.1267G>A | ||
| ENST00000588692.5:c.1051G>A | ENSP00000467862.1:n.1051G>A | |
| ENST00000589318.5:n.1357G>A | ||
| ENST00000592391.5:n.1052G>A | ||
| ENST00000592927.5:c.792G>A | ENSP00000485838.1:n.792G>A | |
| NM_005804.3:c.943G>A | NP_005795.2:p.Ala315Thr | |
| NR_046366.2:n.983-120G>A | ||
| XM_006722606.2:c.328G>A | XP_006722669.1:p.Ala110Thr | |
| XM_011527620.1:c.943G>A | XP_011525922.1:p.Ala315Thr | |
| XM_011527621.1:c.328G>A | XP_011525923.1:p.Ala110Thr | |
| XM_006722606.4:c.328G>A | XP_006722669.1:p.Ala110Thr | |
| XM_011527621.3:c.328G>A | XP_011525923.1:p.Ala110Thr | |
| XM_024451310.1:c.448G>A | XP_024307078.1:p.Ala150Thr | |
| XM_024451311.1:c.328G>A | XP_024307079.1:p.Ala110Thr | |
| XM_024451312.1:c.328G>A | XP_024307080.1:p.Ala110Thr | |
| NM_005804.4:c.943G>A MANE Select | NP_005795.2:p.Ala315Thr |