Revel Score:
ENST00000222248 (MANE Select)
0.955
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00007259 (EAS)
Exomes Max Group AF
0.00008199 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17881961A>C , CM000681.2:g.17881961A>C | GRCh38 |
| NC_000019.9:g.17992770A>C , CM000681.1:g.17992770A>C | GRCh37 |
| NC_000019.8:g.17853770A>C | NCBI36 |
| NG_012930.1:g.14989A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222248.4:c.1060A>C MANE Select | ENSP00000222248.2:p.Thr354Pro | |
| ENST00000222248.3:c.1060A>C | ENSP00000222248.2:p.Thr354Pro | |
| NM_000453.2:c.1060A>C | NP_000444.1:p.Thr354Pro | |
| XM_011528192.1:c.1093A>C | XP_011526494.1:p.Thr365Pro | |
| XM_011528193.1:c.826A>C | XP_011526495.1:p.Thr276Pro | |
| XM_011528194.1:c.727A>C | XP_011526496.1:p.Thr243Pro | |
| XM_011528192.2:c.1093A>C | XP_011526494.1:p.Thr365Pro | |
| XM_011528193.3:c.826A>C | XP_011526495.1:p.Thr276Pro | |
| XM_011528194.3:c.727A>C | XP_011526496.1:p.Thr243Pro | |
| XM_017027158.1:c.793A>C | XP_016882647.1:p.Thr265Pro | |
| NM_000453.3:c.1060A>C MANE Select | NP_000444.1:p.Thr354Pro |