Revel Score:
ENST00000404039
0.570
ENST00000377770 (MANE Select)
0.570
ENST00000332007
0.570
ENST00000427557
0.570
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004429 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00004526 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.154769473G>A , CM000669.2:g.154769473G>A | GRCh38 |
| NC_000007.13:g.154561183G>A , CM000669.1:g.154561183G>A | GRCh37 |
| NC_000007.12:g.154192116G>A | NCBI36 |
| NG_033878.1:g.887140G>A | |
| NG_033878.2:g.1026488G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706130.1:c.757G>A | ENSP00000516215.1:p.Ala253Thr | |
| ENST00000706151.1:c.-36G>A | ENSP00000516234.1:n.-36G>A | |
| ENST00000706153.1:n.586G>A | ||
| ENST00000706154.1:n.224G>A | ||
| ENST00000706155.1:n.371G>A | ||
| ENST00000377770.8:c.940G>A MANE Select | ENSP00000367001.3:p.Ala314Thr | |
| ENST00000332007.7:c.754G>A | ENSP00000328226.3:p.Ala252Thr | |
| ENST00000377770.7:c.940G>A | ENSP00000367001.3:p.Ala314Thr | |
| ENST00000404039.5:c.748G>A | ENSP00000385578.1:p.Ala250Thr | |
| ENST00000427557.1:c.619G>A | ENSP00000397303.1:p.Ala207Thr | |
| NM_001039350.2:c.748G>A | NP_001034439.1:p.Ala250Thr | |
| NM_001290252.1:c.619G>A | NP_001277181.1:p.Ala207Thr | |
| NM_001936.4:c.754G>A | NP_001927.3:p.Ala252Thr | |
| NM_130797.3:c.940G>A | NP_570629.2:p.Ala314Thr | |
| XM_011515865.1:c.748G>A | XP_011514167.1:p.Ala250Thr | |
| XM_011515866.1:c.316G>A | XP_011514168.1:p.Ala106Thr | |
| NM_001364497.1:c.757G>A | NP_001351426.1:p.Ala253Thr | |
| NM_001364498.1:c.757G>A | NP_001351427.1:p.Ala253Thr | |
| NM_001364499.1:c.757G>A | NP_001351428.1:p.Ala253Thr | |
| NM_001364500.1:c.757G>A | NP_001351429.1:p.Ala253Thr | |
| NM_001364501.1:c.748G>A | NP_001351430.1:p.Ala250Thr | |
| NR_157195.1:n.1390G>A | ||
| NR_157196.1:n.1090G>A | ||
| XM_017011812.2:c.316G>A | XP_016867301.1:p.Ala106Thr | |
| NM_130797.4:c.940G>A MANE Select | NP_570629.2:p.Ala314Thr | |
| NM_001039350.3:c.748G>A | NP_001034439.1:p.Ala250Thr | |
| NM_001290252.2:c.619G>A | NP_001277181.1:p.Ala207Thr | |
| NM_001364497.2:c.757G>A | NP_001351426.1:p.Ala253Thr | |
| NM_001364498.2:c.757G>A | NP_001351427.1:p.Ala253Thr | |
| NM_001364499.2:c.757G>A | NP_001351428.1:p.Ala253Thr | |
| NM_001364500.2:c.757G>A | NP_001351429.1:p.Ala253Thr | |
| NM_001936.5:c.754G>A | NP_001927.3:p.Ala252Thr | |
| NR_157196.2:n.1090G>A | ||
| NM_001364501.2:c.748G>A | NP_001351430.1:p.Ala250Thr | |
| NR_157195.2:n.1390G>A |