Revel Score:
ENST00000414099
0.728
ENST00000423572 (MANE Select)
0.728
ENST00000413689 (MANE Plus Clinical)
0.728
ENST00000451551
0.728
ENST00000443581
0.728
ENST00000425664
0.728
ENST00000333535
0.728
ENST00000455624
0.728
ENST00000450102
0.728
ENST00000449557
0.728
ENST00000327956
0.728
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001646 (NFE)
Exomes Max Group AF
0.00001746 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38633304C>T , CM000665.2:g.38633304C>T | GRCh38 |
| NC_000003.11:g.38674795C>T , CM000665.1:g.38674795C>T | GRCh37 |
| NC_000003.10:g.38649799C>T | NCBI36 |
| NG_008934.1:g.21369G>A , LRG_289:g.21369G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327956.7:c.4G>A | ENSP00000333674.7:p.Ala2Thr | |
| ENST00000333535.9:c.4G>A | ENSP00000328968.4:p.Ala2Thr | |
| ENST00000413689.6:c.4G>A MANE Plus Clinical | ENSP00000410257.1:p.Ala2Thr | |
| ENST00000423572.7:c.4G>A MANE Select | ENSP00000398266.2:p.Ala2Thr | |
| ENST00000327956.6:c.4G>A | ENSP00000333674.6:p.Ala2Thr | |
| ENST00000333535.8:c.4G>A | ENSP00000328968.4:p.Ala2Thr | |
| ENST00000413689.5:c.4G>A | ENSP00000410257.1:p.Ala2Thr | |
| ENST00000414099.6:c.4G>A | ENSP00000398962.2:p.Ala2Thr | |
| ENST00000423572.6:c.4G>A | ENSP00000398266.2:p.Ala2Thr | |
| ENST00000425664.5:c.4G>A | ENSP00000416634.1:p.Ala2Thr | |
| ENST00000449557.6:c.4G>A | ENSP00000413996.2:p.Ala2Thr | |
| ENST00000450102.6:c.4G>A | ENSP00000403355.2:p.Ala2Thr | |
| ENST00000451551.6:c.4G>A | ENSP00000388797.2:p.Ala2Thr | |
| ENST00000455624.6:c.4G>A | ENSP00000399524.2:p.Ala2Thr | |
| ENST00000491944.1:n.199G>A | ||
| ENST00000612060.1:c.4G>A | ENSP00000479016.1:p.Ala2Thr | |
| NM_000335.4:c.4G>A , LRG_289t2:c.4G>A | NP_000326.2:p.Ala2Thr | |
| NM_001099404.1:c.4G>A , LRG_289t3:c.4G>A | NP_001092874.1:p.Ala2Thr | |
| NM_001099405.1:c.4G>A | NP_001092875.1:p.Ala2Thr | |
| NM_001160160.1:c.4G>A | NP_001153632.1:p.Ala2Thr | |
| NM_001160161.1:c.4G>A | NP_001153633.1:p.Ala2Thr | |
| NM_198056.2:c.4G>A , LRG_289t1:c.4G>A | NP_932173.1:p.Ala2Thr | |
| XM_006713282.2:c.4G>A | XP_006713345.1:p.Ala2Thr | |
| XM_011533991.1:c.4G>A | XP_011532293.1:p.Ala2Thr | |
| XM_011533992.1:c.4G>A | XP_011532294.1:p.Ala2Thr | |
| NM_001354701.1:c.4G>A | NP_001341630.1:p.Ala2Thr | |
| XM_011533991.2:c.4G>A | XP_011532293.1:p.Ala2Thr | |
| XM_017007017.1:c.4G>A | XP_016862506.1:p.Ala2Thr | |
| NM_000335.5:c.4G>A MANE Select | NP_000326.2:p.Ala2Thr | |
| NM_001160160.2:c.4G>A | NP_001153632.1:p.Ala2Thr | |
| NM_001354701.2:c.4G>A | NP_001341630.1:p.Ala2Thr | |
| NM_001099404.2:c.4G>A MANE Plus Clinical | NP_001092874.1:p.Ala2Thr | |
| NM_001099405.2:c.4G>A | NP_001092875.1:p.Ala2Thr | |
| NM_001160161.2:c.4G>A | NP_001153633.1:p.Ala2Thr | |
| NM_198056.3:c.4G>A | NP_932173.1:p.Ala2Thr |