Revel Score:
ENST00000264613 (MANE Select)
0.671
ENST00000494544
0.671
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06303031 (SAS)
Genomes Max Group AF
0.05489184 (SAS)
Exomes Max Group AF
0.06320258 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149198428G>A , CM000665.2:g.149198428G>A | GRCh38 |
| NC_000003.11:g.148916215G>A , CM000665.1:g.148916215G>A | GRCh37 |
| NC_000003.10:g.150398905G>A | NCBI36 |
| NG_011800.1:g.28618C>T | |
| NG_011800.2:g.28618C>T | |
| NG_011800.3:g.28618C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264613.11:c.1652C>T MANE Select | ENSP00000264613.6:p.Thr551Ile | |
| ENST00000264613.10:c.1652C>T | ENSP00000264613.6:p.Thr551Ile | |
| ENST00000462336.5:n.26C>T | ||
| ENST00000471356.1:n.471C>T | ||
| ENST00000481169.5:c.1652C>T | ENSP00000418773.1:p.Thr551Ile | |
| ENST00000489736.5:n.877C>T | ||
| ENST00000490639.5:n.1684C>T | ||
| ENST00000494544.1:c.1001C>T | ENSP00000420545.1:p.Thr334Ile | |
| ENST00000497797.5:n.261C>T | ||
| NM_000096.3:c.1652C>T | NP_000087.1:p.Thr551Ile | |
| NR_046371.1:n.1905C>T | ||
| XM_006713499.2:c.1652C>T | XP_006713562.1:p.Thr551Ile | |
| XM_006713500.2:c.1652C>T | XP_006713563.1:p.Thr551Ile | |
| XM_006713501.2:c.1652C>T | XP_006713564.1:p.Thr551Ile | |
| XM_006713502.2:c.1652C>T | XP_006713565.1:p.Thr551Ile | |
| XM_011512435.1:c.1652C>T | XP_011510737.1:p.Thr551Ile | |
| XR_427361.2:n.1910C>T | ||
| XM_006713499.3:c.1652C>T | XP_006713562.1:p.Thr551Ile | |
| XM_006713500.4:c.1652C>T | XP_006713563.1:p.Thr551Ile | |
| XM_006713501.3:c.1652C>T | XP_006713564.1:p.Thr551Ile | |
| XM_011512435.2:c.1652C>T | XP_011510737.1:p.Thr551Ile | |
| XM_017005734.2:c.1652C>T | XP_016861223.1:p.Thr551Ile | |
| XM_017005735.2:c.1652C>T | XP_016861224.1:p.Thr551Ile | |
| XR_427361.3:n.1868C>T | ||
| NM_000096.4:c.1652C>T MANE Select | NP_000087.2:p.Thr551Ile | |
| NR_046371.2:n.1689C>T |