Revel Score:
ENST00000389048 (MANE Select)
0.822
ENST00000453137
0.822
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005137 (SAS)
Genomes Max Group AF
0.0000529 (AMR)
Exomes Max Group AF
0.00005396 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29222407G>A , CM000664.2:g.29222407G>A | GRCh38 |
| NC_000002.11:g.29445273G>A , CM000664.1:g.29445273G>A | GRCh37 |
| NC_000002.10:g.29298777G>A | NCBI36 |
| NG_009445.1:g.704160C>T , LRG_488:g.704160C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3452C>T MANE Select | ENSP00000373700.3:p.Thr1151Met | |
| ENST00000431873.6:c.679C>T | ||
| ENST00000638605.1:n.329C>T | ||
| ENST00000642122.1:c.248C>T | ENSP00000493203.1:p.Thr83Met | |
| ENST00000389048.7:c.3452C>T | ENSP00000373700.3:p.Thr1151Met | |
| ENST00000431873.5:c.332C>T | ENSP00000414027.2:p.Thr111Met | |
| ENST00000453137.1:c.146C>T | ENSP00000387488.1:p.Thr49Met | |
| ENST00000618119.4:c.2321C>T | ENSP00000482733.1:p.Thr774Met | |
| NM_004304.4:c.3452C>T | NP_004295.2:p.Thr1151Met | |
| NM_001353765.1:c.248C>T | NP_001340694.1:p.Thr83Met | |
| XM_024452778.1:c.605C>T | XP_024308546.1:p.Thr202Met | |
| XM_024452779.1:c.248C>T | XP_024308547.1:p.Thr83Met | |
| NM_004304.5:c.3452C>T MANE Select | NP_004295.2:p.Thr1151Met | |
| NM_001353765.2:c.248C>T | NP_001340694.1:p.Thr83Met |