Revel Score:
ENST00000446728
0.033
ENST00000367795
0.237
ENST00000367790
0.237
ENST00000426706
0.237
ENST00000367789
0.237
ENST00000263686 (MANE Select)
0.237
ENST00000544572
0.237
ENST00000367793
0.237
ENST00000367794
0.237
ENST00000367792
0.237
ENST00000367791
0.237
ENST00000367788
0.237
ENST00000367786
0.237
ENST00000458599
0.237
gnomAD v4:
Joint Max Group AF
0.00000876 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169594713T>C , CM000663.2:g.169594713T>C | GRCh38 |
| NC_000001.10:g.169563951T>C , CM000663.1:g.169563951T>C | GRCh37 |
| NC_000001.9:g.167830575T>C | NCBI36 |
| NG_012125.1:g.40427A>G | |
| NG_012125.2:g.40427A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263686.11:c.2266A>G MANE Select | ENSP00000263686.5:p.Thr756Ala | |
| ENST00000263686.10:c.2266A>G | ENSP00000263686.5:p.Thr756Ala | |
| ENST00000367786.6:c.2080A>G | ENSP00000356760.1:p.Thr694Ala | |
| ENST00000367788.6:c.2080A>G | ENSP00000356762.1:p.Thr694Ala | |
| ENST00000426706.6:c.2263A>G | ENSP00000391694.2:p.Thr755Ala | |
| ENST00000458599.6:c.1714A>G | ENSP00000399368.2:p.Thr572Ala | |
| NM_003005.3:c.2266A>G | NP_002996.2:p.Thr756Ala | |
| XM_005245435.1:c.2266A>G | XP_005245492.1:p.Thr756Ala | |
| XM_005245436.2:c.2266A>G | XP_005245493.1:p.Thr756Ala | |
| XM_005245438.1:c.2266A>G | XP_005245495.1:p.Thr756Ala | |
| XM_005245439.1:c.2266A>G | XP_005245496.1:p.Thr756Ala | |
| XM_005245440.1:c.2080A>G | XP_005245497.1:p.Thr694Ala | |
| XM_005245435.2:c.2266A>G | XP_005245492.1:p.Thr756Ala | |
| XM_005245436.4:c.2266A>G | XP_005245493.1:p.Thr756Ala | |
| XM_005245438.2:c.2266A>G | XP_005245495.1:p.Thr756Ala | |
| XM_005245439.2:c.2266A>G | XP_005245496.1:p.Thr756Ala | |
| XM_005245440.2:c.2080A>G | XP_005245497.1:p.Thr694Ala | |
| NM_003005.4:c.2266A>G MANE Select | NP_002996.2:p.Thr756Ala |