Revel Score:
ENST00000272286 (MANE Select)
0.083
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01041797 (MID)
Genomes Max Group AF
0.00371619 (AMR)
Exomes Max Group AF
0.01079187 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43872296A>T , CM000664.2:g.43872296A>T | GRCh38 |
| NC_000002.11:g.44099435A>T , CM000664.1:g.44099435A>T | GRCh37 |
| NC_000002.10:g.43952939A>T | NCBI36 |
| NG_008884.1:g.38333A>T | |
| NG_008884.2:g.45355A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1201A>T MANE Select | ENSP00000272286.2:p.Thr401Ser | |
| ENST00000644611.1:c.1213A>T | ENSP00000495423.1:p.Thr405Ser | |
| ENST00000272286.2:c.1201A>T | ENSP00000272286.2:p.Thr401Ser | |
| NM_022437.2:c.1201A>T | NP_071882.1:p.Thr401Ser | |
| XM_005264483.2:c.1198A>T | XP_005264540.1:p.Thr400Ser | |
| XM_011533029.1:c.1213A>T | XP_011531331.1:p.Thr405Ser | |
| XM_011533030.1:c.1210A>T | XP_011531332.1:p.Thr404Ser | |
| XM_011533031.1:c.985A>T | XP_011531333.1:p.Thr329Ser | |
| XR_939707.1:n.1703A>T | ||
| NM_001357321.1:c.1198A>T | NP_001344250.1:p.Thr400Ser | |
| XM_011533029.2:c.1213A>T | XP_011531331.1:p.Thr405Ser | |
| XM_011533030.2:c.1210A>T | XP_011531332.1:p.Thr404Ser | |
| XR_001738891.1:n.1717A>T | ||
| XR_939707.2:n.1717A>T | ||
| NM_022437.3:c.1201A>T MANE Select | NP_071882.1:p.Thr401Ser | |
| NM_001357321.2:c.1198A>T | NP_001344250.1:p.Thr400Ser |