Revel Score:
ENST00000258168 (MANE Select)
0.931
ENST00000425577
0.931
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81264677C>A , CM000678.2:g.81264677C>A | GRCh38 |
| NC_000016.9:g.81298282C>A , CM000678.1:g.81298282C>A | GRCh37 |
| NC_000016.8:g.79855783C>A | NCBI36 |
| NG_012171.1:g.30987C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258168.7:c.509C>A MANE Select | ENSP00000258168.2:p.Thr170Lys | |
| ENST00000258168.6:c.509C>A | ENSP00000258168.2:p.Thr170Lys | |
| ENST00000563804.5:c.*133C>A | ENSP00000457910.1:n.*133C>A | |
| NM_017429.2:c.509C>A | NP_059125.2:p.Thr170Lys | |
| XM_011523109.1:c.509C>A | XP_011521411.1:p.Thr170Lys | |
| XM_011523110.1:c.-41C>A | XP_011521412.1:n.-41C>A | |
| XM_011523109.2:c.509C>A | XP_011521411.1:p.Thr170Lys | |
| XM_017023286.2:c.509C>A | XP_016878775.1:p.Thr170Lys | |
| XM_017023287.2:c.509C>A | XP_016878776.1:p.Thr170Lys | |
| XM_017023288.2:c.509C>A | XP_016878777.1:p.Thr170Lys | |
| XR_002957813.1:n.970C>A | ||
| NM_017429.3:c.509C>A MANE Select | NP_059125.2:p.Thr170Lys |