Revel Score:
ENST00000293328 (MANE Select)
0.495
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42218275C>T , CM000679.2:g.42218275C>T | GRCh38 |
| NC_000017.10:g.40370293C>T , CM000679.1:g.40370293C>T | GRCh37 |
| NC_000017.9:g.37623819C>T | NCBI36 |
| NG_007271.1:g.63132G>A , LRG_192:g.63132G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415845.2:c.1045G>A | ENSP00000398379.2:p.Ala349Thr | |
| ENST00000698774.1:n.1219G>A | ||
| ENST00000698775.1:c.*1051G>A | ENSP00000513922.1:n.*1051G>A | |
| ENST00000698776.1:c.1045G>A | ENSP00000513923.1:p.Ala349Thr | |
| ENST00000698777.1:c.1045G>A | ENSP00000513924.1:p.Ala349Thr | |
| ENST00000698778.1:c.1045G>A | ENSP00000513925.1:p.Ala349Thr | |
| ENST00000698779.1:c.1045G>A | ENSP00000513926.1:p.Ala349Thr | |
| ENST00000698801.1:n.921G>A | ||
| ENST00000698802.1:c.732G>A | ENSP00000513944.1:n.732G>A | |
| ENST00000698803.1:c.*795G>A | ENSP00000513945.1:n.*795G>A | |
| ENST00000698804.1:n.2778G>A | ||
| ENST00000698805.1:n.2388G>A | ||
| ENST00000698806.1:c.*759G>A | ENSP00000513946.1:n.*759G>A | |
| ENST00000698807.1:n.2421G>A | ||
| ENST00000698808.1:c.1042G>A | ENSP00000513947.1:p.Ala348Thr | |
| ENST00000698809.1:c.1045G>A | ENSP00000513948.1:p.Ala349Thr | |
| ENST00000698810.1:c.*795G>A | ENSP00000513949.1:n.*795G>A | |
| ENST00000698812.1:c.*1051G>A | ENSP00000513950.1:n.*1051G>A | |
| ENST00000698813.1:c.1045G>A | ENSP00000513951.1:p.Ala349Thr | |
| ENST00000698814.1:c.1045G>A | ENSP00000513952.1:p.Ala349Thr | |
| ENST00000698815.1:c.1045G>A | ENSP00000513953.1:p.Ala349Thr | |
| ENST00000698816.1:n.1133G>A | ||
| ENST00000293328.8:c.1045G>A MANE Select | ENSP00000293328.3:p.Ala349Thr | |
| ENST00000293328.7:c.1045G>A | ENSP00000293328.3:p.Ala349Thr | |
| ENST00000468312.1:n.1214G>A | ||
| NM_012448.3:c.1045G>A , LRG_192t1:c.1045G>A | NP_036580.2:p.Ala349Thr | |
| XM_005257625.2:c.763G>A | XP_005257682.1:p.Ala255Thr | |
| XM_005257626.3:c.1045G>A | XP_005257683.1:p.Ala349Thr | |
| XM_005257626.4:c.1045G>A | XP_005257683.1:p.Ala349Thr | |
| XM_017024977.1:c.763G>A | XP_016880466.1:p.Ala255Thr | |
| XM_024450897.1:c.1045G>A | XP_024306665.1:p.Ala349Thr | |
| XM_024450898.1:c.1045G>A | XP_024306666.1:p.Ala349Thr | |
| NM_012448.4:c.1045G>A MANE Select | NP_036580.2:p.Ala349Thr |