Revel Score:
ENST00000397752 (MANE Select)
0.150
ENST00000318493
0.150
ENST00000436117
0.150
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00016628 (NFE)
Genomes Max Group AF
0.0000585 (NFE)
Exomes Max Group AF
0.00017023 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116740993A>G , CM000669.2:g.116740993A>G | GRCh38 |
| NC_000007.13:g.116381047A>G , CM000669.1:g.116381047A>G | GRCh37 |
| NC_000007.12:g.116168283A>G | NCBI36 |
| NG_008996.1:g.73589A>G , LRG_662:g.73589A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422097.2:c.1669A>G | ENSP00000398776.2:p.Thr557Ala | |
| ENST00000436117.3:c.1669A>G | ENSP00000410980.2:p.Thr557Ala | |
| ENST00000318493.11:c.1669A>G | ENSP00000317272.6:p.Thr557Ala | |
| ENST00000397752.8:c.1669A>G MANE Select | ENSP00000380860.3:p.Thr557Ala | |
| ENST00000318493.10:c.1669A>G | ENSP00000317272.6:p.Thr557Ala | |
| ENST00000397752.7:c.1669A>G | ENSP00000380860.3:p.Thr557Ala | |
| ENST00000436117.2:c.1669A>G | ENSP00000410980.2:p.Thr557Ala | |
| ENST00000495962.1:n.649A>G | ||
| NM_000245.2:c.1669A>G | NP_000236.2:p.Thr557Ala | |
| NM_001127500.1:c.1669A>G , LRG_662t1:c.1669A>G | NP_001120972.1:p.Thr557Ala | |
| XM_006715990.2:c.379A>G | XP_006716053.1:p.Thr127Ala | |
| XM_006715991.2:c.379A>G | XP_006716054.1:p.Thr127Ala | |
| XM_011516223.1:c.1726A>G | XP_011514525.1:p.Thr576Ala | |
| NM_000245.3:c.1669A>G | NP_000236.2:p.Thr557Ala | |
| NM_001127500.2:c.1669A>G | NP_001120972.1:p.Thr557Ala | |
| NM_001324401.1:c.1669A>G | NP_001311330.1:p.Thr557Ala | |
| NM_001324402.1:c.379A>G | NP_001311331.1:p.Thr127Ala | |
| XR_001744772.1:n.1900A>G | ||
| NM_001127500.3:c.1669A>G | NP_001120972.1:p.Thr557Ala | |
| NM_000245.4:c.1669A>G MANE Select | NP_000236.2:p.Thr557Ala | |
| NM_001324401.2:c.1669A>G | NP_001311330.1:p.Thr557Ala | |
| NM_001324402.2:c.379A>G | NP_001311331.1:p.Thr127Ala | |
| NM_001324401.3:c.1669A>G | NP_001311330.1:p.Thr557Ala |