Revel Score:
ENST00000399402
0.789
ENST00000307363 (MANE Select)
0.789
ENST00000445488
0.789
ENST00000307377
0.789
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001376 (NFE)
Exomes Max Group AF
0.0000146 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33014292T>C , CM000665.2:g.33014292T>C | GRCh38 |
| NC_000003.11:g.33055784T>C , CM000665.1:g.33055784T>C | GRCh37 |
| NC_000003.10:g.33030788T>C | NCBI36 |
| NG_009005.1:g.87911A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1498A>G MANE Select | ENSP00000306920.4:p.Thr500Ala | |
| ENST00000307363.9:c.1498A>G | ENSP00000306920.4:p.Thr500Ala | |
| ENST00000307377.12:c.1105A>G | ENSP00000305920.8:p.Thr369Ala | |
| ENST00000399402.7:c.1408A>G | ENSP00000382333.2:p.Thr470Ala | |
| ENST00000461475.5:n.597A>G | ||
| ENST00000497796.5:n.750A>G | ||
| NM_000404.2:c.1498A>G | NP_000395.2:p.Thr500Ala | |
| NM_000404.3:c.1498A>G | NP_000395.2:p.Thr500Ala | |
| NM_001079811.1:c.1408A>G | NP_001073279.1:p.Thr470Ala | |
| NM_001079811.2:c.1408A>G | NP_001073279.1:p.Thr470Ala | |
| NM_001135602.1:c.1105A>G | NP_001129074.1:p.Thr369Ala | |
| NM_001135602.2:c.1105A>G | NP_001129074.1:p.Thr369Ala | |
| NM_001317040.1:c.1642A>G | NP_001303969.1:p.Thr548Ala | |
| NM_000404.4:c.1498A>G MANE Select | NP_000395.3:p.Thr500Ala | |
| NM_001079811.3:c.1408A>G | NP_001073279.2:p.Thr470Ala | |
| NM_001135602.3:c.1105A>G | NP_001129074.2:p.Thr369Ala | |
| NM_001317040.2:c.1642A>G | NP_001303969.2:p.Thr548Ala | |
| NM_001393580.1:c.1498A>G | NP_001380509.1:p.Thr500Ala |