Revel Score:
ENST00000545712 (MANE Select)
0.684
ENST00000266839
0.684
ENST00000542390
0.684
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00834011 (AFR)
Genomes Max Group AF
0.00792544 (AFR)
Exomes Max Group AF
0.00834631 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109561798C>T , CM000674.2:g.109561798C>T | GRCh38 |
| NC_000012.11:g.109999603C>T , CM000674.1:g.109999603C>T | GRCh37 |
| NC_000012.10:g.108483986C>T | NCBI36 |
| NG_007096.1:g.16700G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.403G>A MANE Select | ENSP00000445920.1:p.Ala135Thr | |
| ENST00000420167.6:c.*232G>A | ENSP00000416136.2:n.*232G>A | |
| ENST00000537496.5:c.403G>A | ENSP00000444793.1:p.Ala135Thr | |
| ENST00000540016.5:c.247G>A | ENSP00000474582.1:p.Ala83Thr | |
| ENST00000541763.6:c.403G>A | ENSP00000474981.1:p.Ala135Thr | |
| ENST00000542390.5:n.430G>A | ||
| ENST00000544051.5:c.*197G>A | ENSP00000438079.1:n.*197G>A | |
| ENST00000545712.6:c.403G>A | ENSP00000445920.1:p.Ala135Thr | |
| NM_052845.3:c.403G>A | NP_443077.1:p.Ala135Thr | |
| NR_038118.1:n.476G>A | ||
| XM_011538266.1:c.161G>A | XP_011536568.1:p.Gly54Asp | |
| XM_011538267.1:c.161G>A | XP_011536569.1:p.Gly54Asp | |
| XM_011538268.1:c.130G>A | XP_011536570.1:p.Ala44Thr | |
| XM_011538269.1:c.127G>A | XP_011536571.1:p.Ala43Thr | |
| XM_011538267.3:c.161G>A | XP_011536569.1:p.Gly54Asp | |
| XM_011538268.2:c.130G>A | XP_011536570.1:p.Ala44Thr | |
| XM_011538269.2:c.127G>A | XP_011536571.1:p.Ala43Thr | |
| XM_024448961.1:c.403G>A | XP_024304729.1:p.Ala135Thr | |
| NM_052845.4:c.403G>A MANE Select | NP_443077.1:p.Ala135Thr | |
| NR_038118.2:n.427G>A |