COSMIC:
COSM3756154 (not active)
Revel Score:
ENST00000261292 (MANE Select)
0.195
ENST00000427224
0.195
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34914913 (MID)
Genomes Max Group AF
0.30519836 (EAS)
Exomes Max Group AF
0.34991633 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49567494C>T , CM000680.2:g.49567494C>T | GRCh38 |
| NC_000018.9:g.47093864C>T , CM000680.1:g.47093864C>T | GRCh37 |
| NC_000018.8:g.45347862C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261292.9:c.332C>T MANE Select | ENSP00000261292.4:p.Thr111Ile | |
| ENST00000261292.8:c.332C>T | ENSP00000261292.4:p.Thr111Ile | |
| ENST00000427224.6:c.332C>T | ENSP00000387978.2:p.Thr111Ile | |
| ENST00000577628.5:c.440C>T | ENSP00000463835.1:p.Thr147Ile | |
| ENST00000579750.1:c.296C>T | ENSP00000462480.1:p.Thr99Ile | |
| ENST00000580036.5:c.332C>T | ENSP00000462420.1:p.Thr111Ile | |
| NM_001308006.1:c.332C>T | NP_001294935.1:p.Thr111Ile | |
| NM_006033.2:c.332C>T | NP_006024.1:p.Thr111Ile | |
| NM_006033.3:c.332C>T | NP_006024.1:p.Thr111Ile | |
| XM_005258390.1:c.440C>T | XP_005258447.1:p.Thr147Ile | |
| XM_011526265.1:c.440C>T | XP_011524567.1:p.Thr147Ile | |
| XM_011526267.1:c.92C>T | XP_011524569.1:p.Thr31Ile | |
| XM_011526265.3:c.440C>T | XP_011524567.1:p.Thr147Ile | |
| XM_017026095.1:c.-372C>T | XP_016881584.1:n.-372C>T | |
| NM_006033.4:c.332C>T MANE Select | NP_006024.1:p.Thr111Ile | |
| NM_001308006.2:c.332C>T | NP_001294935.1:p.Thr111Ile |