Revel Score:
ENST00000408891
0.097
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001327 (AMR)
Exomes Max Group AF
0.00001779 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3278074T>C , CM000679.2:g.3278074T>C | GRCh38 |
| NC_000017.10:g.3181368T>C , CM000679.1:g.3181368T>C | GRCh37 |
| NC_000017.9:g.3128118T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573901.3:c.844A>G MANE Select | ENSP00000516654.1:p.Thr282Ala | |
| ENST00000641164.1:c.844A>G | ENSP00000493039.1:p.Thr282Ala | |
| ENST00000642052.1:c.844A>G | ENSP00000493441.1:p.Thr282Ala | |
| ENST00000408891.2:c.862A>G | ENSP00000386180.2:p.Thr288Ala | |
| NM_002551.3:c.862A>G | NP_002542.3:p.Thr288Ala | |
| XM_017024697.1:c.868A>G | XP_016880186.1:p.Thr290Ala | |
| XM_017024698.1:c.868A>G | XP_016880187.1:p.Thr290Ala | |
| XM_024450776.1:c.868A>G | XP_024306544.1:p.Thr290Ala | |
| NM_002551.4:c.844A>G | NP_002542.4:p.Thr282Ala |