Revel Score:
ENST00000533603
0.468
ENST00000358171 (MANE Select)
0.468
ENST00000526397
0.468
ENST00000421448
0.468
ENST00000525492
0.468
ENST00000530284
0.468
ENST00000532356
0.468
ENST00000524558
0.468
ENST00000525611
0.468
ENST00000528760
0.468
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00161264 (AFR)
Genomes Max Group AF
0.00127938 (AFR)
Exomes Max Group AF
0.00180473 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.75566914A>G , CM000673.2:g.75566914A>G | GRCh38 |
| NC_000011.9:g.75277959A>G , CM000673.1:g.75277959A>G | GRCh37 |
| NC_000011.8:g.74955607A>G | NCBI36 |
| NG_012052.1:g.9790A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358171.8:c.565A>G MANE Select | ENSP00000350894.4:p.Thr189Ala | |
| ENST00000533449.6:c.565A>G | ENSP00000431827.2:p.Thr189Ala | |
| ENST00000649490.1:c.565A>G | ENSP00000497544.1:p.Thr189Ala | |
| ENST00000358171.7:c.565A>G | ENSP00000350894.3:p.Thr189Ala | |
| ENST00000524558.5:c.565A>G | ENSP00000434412.1:p.Thr189Ala | |
| ENST00000525492.5:c.424A>G | ENSP00000434482.1:p.Thr142Ala | |
| ENST00000525611.5:c.565A>G | ENSP00000435452.1:p.Thr189Ala | |
| ENST00000526397.5:c.565A>G | ENSP00000434964.1:p.Thr189Ala | |
| ENST00000528760.1:c.565A>G | ENSP00000437108.1:p.Thr189Ala | |
| ENST00000530284.5:c.565A>G | ENSP00000436305.1:p.Thr189Ala | |
| ENST00000532356.5:c.565A>G | ENSP00000436040.1:p.Thr189Ala | |
| ENST00000533603.5:c.565A>G | ENSP00000434657.1:p.Thr189Ala | |
| NM_001207014.1:c.565A>G | NP_001193943.1:p.Thr189Ala | |
| NM_001235.3:c.565A>G | NP_001226.2:p.Thr189Ala | |
| XM_006718729.1:c.565A>G | XP_006718792.1:p.Thr189Ala | |
| XM_011545326.1:c.565A>G | XP_011543628.1:p.Thr189Ala | |
| XM_011545327.1:c.565A>G | XP_011543629.1:p.Thr189Ala | |
| XM_024448756.1:c.565A>G | XP_024304524.1:p.Thr189Ala | |
| NM_001207014.2:c.565A>G | NP_001193943.1:p.Thr189Ala | |
| NM_001235.5:c.565A>G MANE Select | NP_001226.2:p.Thr189Ala | |
| NM_001207014.3:c.565A>G | NP_001193943.1:p.Thr189Ala |