Revel Score:
ENST00000392701 (MANE Select)
0.270
ENST00000412248
0.270
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004346 (EAS)
Exomes Max Group AF
0.00003348 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165761928G>A , CM000664.2:g.165761928G>A | GRCh38 |
| NC_000002.11:g.166618438G>A , CM000664.1:g.166618438G>A | GRCh37 |
| NC_000002.10:g.166326684G>A | NCBI36 |
| NG_012069.1:g.37366C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392701.8:c.815C>T MANE Select | ENSP00000376465.3:p.Thr272Met | |
| ENST00000392701.7:c.815C>T | ENSP00000376465.3:p.Thr272Met | |
| ENST00000412248.5:c.815C>T | ENSP00000412643.1:p.Thr272Met | |
| ENST00000437849.1:c.203C>T | ENSP00000391104.1:p.Thr68Met | |
| ENST00000463254.1:n.98C>T | ||
| NM_004482.3:c.815C>T | NP_004473.2:p.Thr272Met | |
| XM_005246449.1:c.815C>T | XP_005246506.1:p.Thr272Met | |
| XM_006712402.2:c.815C>T | XP_006712465.1:p.Thr272Met | |
| XM_011510929.1:c.815C>T | XP_011509231.1:p.Thr272Met | |
| XM_017003770.1:c.815C>T | XP_016859259.1:p.Thr272Met | |
| XR_002959253.1:n.1156C>T | ||
| NM_004482.4:c.815C>T MANE Select | NP_004473.2:p.Thr272Met |