Revel Score:
ENST00000409709 (MANE Select)
0.823
ENST00000458637
0.823
ENST00000409619
0.823
ENST00000545136
0.823
ENST00000358342
0.823
ENST00000343356
0.823
ENST00000341717
0.823
ENST00000458169
0.823
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000738 (EAS)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77213972C>T , CM000673.2:g.77213972C>T | GRCh38 |
| NC_000011.9:g.76925017C>T , CM000673.1:g.76925017C>T | GRCh37 |
| NC_000011.8:g.76602665C>T | NCBI36 |
| NG_009086.1:g.90708C>T | |
| NG_009086.2:g.90727C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.6551C>T MANE Select | ENSP00000386331.3:p.Thr2184Met | |
| ENST00000670577.1:c.4352C>T | ||
| ENST00000409619.6:c.6404C>T | ENSP00000386635.2:p.Thr2135Met | |
| ENST00000409709.7:c.6551C>T | ENSP00000386331.3:p.Thr2184Met | |
| ENST00000458169.2:c.3977C>T | ENSP00000417017.2:p.Thr1326Met | |
| ENST00000458637.6:c.6431C>T | ENSP00000392185.2:p.Thr2144Met | |
| ENST00000481328.7:n.5101C>T | ||
| ENST00000605744.1:n.2065C>T | ||
| NM_000260.3:c.6551C>T | NP_000251.3:p.Thr2184Met | |
| NM_001127180.1:c.6431C>T | NP_001120652.1:p.Thr2144Met | |
| XM_005274012.2:c.6434C>T | XP_005274069.1:p.Thr2145Met | |
| XM_006718561.2:c.6437C>T | XP_006718624.1:p.Thr2146Met | |
| XR_949941.1:n.6845C>T | ||
| XM_017017780.1:c.6641C>T | XP_016873269.1:p.Thr2214Met | |
| XM_017017784.1:c.6524C>T | XP_016873273.1:p.Thr2175Met | |
| XM_017017788.1:c.6527C>T | XP_016873277.1:p.Thr2176Met | |
| XR_001747885.1:n.6630C>T | ||
| XR_001747887.1:n.6616C>T | ||
| NM_000260.4:c.6551C>T MANE Select | NP_000251.3:p.Thr2184Met | |
| NM_001127180.2:c.6431C>T | NP_001120652.1:p.Thr2144Met | |
| NM_001369365.1:c.6404C>T | NP_001356294.1:p.Thr2135Met |