Revel Score:
ENST00000322507 (MANE Select)
0.249
ENST00000425443
0.249
ENST00000432784
0.249
ENST00000345356
0.249
ENST00000416123
0.249
ENST00000483888
0.249
ENST00000493109
0.249
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00042313 (NFE)
Genomes Max Group AF
0.00033082 (NFE)
Exomes Max Group AF
0.00042286 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75113301G>A , CM000668.2:g.75113301G>A | GRCh38 |
| NC_000006.11:g.75823017G>A , CM000668.1:g.75823017G>A | GRCh37 |
| NC_000006.10:g.75879737G>A | NCBI36 |
| NG_042181.1:g.97607C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.7853C>T MANE Select | ENSP00000325146.8:p.Thr2618Met | |
| ENST00000322507.12:c.7853C>T | ENSP00000325146.8:p.Thr2618Met | |
| ENST00000345356.10:c.4361C>T | ENSP00000305147.9:p.Thr1454Met | |
| ENST00000416123.6:c.7853C>T | ENSP00000412864.2:p.Thr2618Met | |
| ENST00000425443.6:c.767C>T | ENSP00000399812.2:p.Thr256Met | |
| ENST00000483888.6:c.7853C>T | ENSP00000421216.1:p.Thr2618Met | |
| ENST00000493109.2:c.515C>T | ENSP00000423423.1:p.Thr172Met | |
| ENST00000615798.4:c.4286C>T | ENSP00000483232.1:p.Thr1429Met | |
| NM_004370.5:c.7853C>T | NP_004361.3:p.Thr2618Met | |
| NM_080645.2:c.4361C>T | NP_542376.2:p.Thr1454Met | |
| XM_011535434.1:c.7853C>T | XP_011533736.1:p.Thr2618Met | |
| XM_011535435.1:c.7580C>T | XP_011533737.1:p.Thr2527Met | |
| XM_011535436.1:c.4361C>T | XP_011533738.1:p.Thr1454Met | |
| XM_011535436.2:c.4361C>T | XP_011533738.1:p.Thr1454Met | |
| XM_017010252.2:c.7817C>T | XP_016865741.1:p.Thr2606Met | |
| NM_004370.6:c.7853C>T MANE Select | NP_004361.3:p.Thr2618Met | |
| NM_080645.3:c.4361C>T | NP_542376.2:p.Thr1454Met |