Revel Score:
ENST00000407528
0.264
ENST00000405615
0.264
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000555 (AMR)
Exomes Max Group AF
0.00000743 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.85979226A>G , CM000665.2:g.85979226A>G | GRCh38 |
| NC_000003.11:g.86028376A>G , CM000665.1:g.86028376A>G | GRCh37 |
| NC_000003.10:g.86111066A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383699.8:c.970+17579A>G MANE Select | ENSP00000373200.3:n.970+17579A>G | |
| ENST00000383699.7:c.970+17579A>G | ENSP00000373200.3:n.970+17579A>G | |
| ENST00000405615.2:c.1012A>G | ENSP00000384193.2:p.Thr338Ala | |
| ENST00000407528.6:c.1006A>G | ENSP00000384575.2:p.Thr336Ala | |
| NM_001167674.1:c.1006A>G | NP_001161146.1:p.Thr336Ala | |
| NM_001167675.1:c.970+17579A>G | NP_001161147.1:n.970+17579A>G | |
| NM_001256502.1:c.682A>G | NP_001243431.1:p.Thr228Ala | |
| NM_001256503.1:c.682A>G | NP_001243432.1:p.Thr228Ala | |
| NM_001256504.1:c.619+17579A>G | NP_001243433.1:n.619+17579A>G | |
| NM_001256505.1:c.619+17579A>G | NP_001243434.1:n.619+17579A>G | |
| NM_153184.3:c.1012A>G | NP_694854.2:p.Thr338Ala | |
| XM_006713081.2:c.1006A>G | XP_006713144.1:p.Thr336Ala | |
| XM_006713082.2:c.943+17579A>G | XP_006713145.1:n.943+17579A>G | |
| XM_006713081.4:c.1006A>G | XP_006713144.1:p.Thr336Ala | |
| XM_006713082.3:c.943+17579A>G | XP_006713145.1:n.943+17579A>G | |
| XM_017006062.2:c.1048A>G | XP_016861551.1:p.Thr350Ala | |
| XM_017006063.2:c.949+17579A>G | XP_016861552.1:n.949+17579A>G | |
| NM_001167674.2:c.1006A>G | NP_001161146.1:p.Thr336Ala | |
| NM_001167675.2:c.970+17579A>G MANE Select | NP_001161147.1:n.970+17579A>G | |
| NM_001256502.2:c.682A>G | NP_001243431.1:p.Thr228Ala | |
| NM_001256503.2:c.682A>G | NP_001243432.1:p.Thr228Ala | |
| NM_001256504.2:c.619+17579A>G | NP_001243433.1:n.619+17579A>G | |
| NM_001256505.2:c.619+17579A>G | NP_001243434.1:n.619+17579A>G | |
| NM_001375960.1:c.1033A>G | NP_001362889.1:p.Thr345Ala | |
| NM_001375961.1:c.922+17579A>G | NP_001362890.1:n.922+17579A>G | |
| NM_001375964.1:c.832+17579A>G | NP_001362893.1:n.832+17579A>G | |
| NM_001375967.1:c.820+17579A>G | NP_001362896.1:n.820+17579A>G | |
| NM_001375968.1:c.679+17579A>G | NP_001362897.1:n.679+17579A>G | |
| NM_153184.4:c.1012A>G | NP_694854.2:p.Thr338Ala | |
| NM_001381963.1:c.943+17579A>G | NP_001368892.1:n.943+17579A>G | |
| NM_001381964.1:c.1006A>G | NP_001368893.1:p.Thr336Ala |