Revel Score:
ENST00000271588 (MANE Select)
0.087
ENST00000367492
0.087
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186095395A>G , CM000663.2:g.186095395A>G | GRCh38 |
| NC_000001.10:g.186064527A>G , CM000663.1:g.186064527A>G | GRCh37 |
| NC_000001.9:g.184331150A>G | NCBI36 |
| NG_011841.1:g.365845A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.10447A>G MANE Select | ENSP00000271588.4:p.Thr3483Ala | |
| ENST00000271588.8:c.10447A>G | ENSP00000271588.4:p.Thr3483Ala | |
| NM_031935.2:c.10447A>G | NP_114141.2:p.Thr3483Ala | |
| XM_011510037.1:c.10162A>G | XP_011508339.1:p.Thr3388Ala | |
| XM_011510038.1:c.10447A>G | XP_011508340.1:p.Thr3483Ala | |
| XM_011510039.1:c.10447A>G | XP_011508341.1:p.Thr3483Ala | |
| XM_011510038.3:c.10447A>G | XP_011508340.1:p.Thr3483Ala | |
| XM_017002437.1:c.8470A>G | XP_016857926.1:p.Thr2824Ala | |
| XM_024450118.1:c.*95A>G | XP_024305886.1:n.*95A>G | |
| NM_031935.3:c.10447A>G MANE Select | NP_114141.2:p.Thr3483Ala |