Revel Score:
ENST00000403665 (MANE Select)
0.961
ENST00000264692
0.961
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186284215T>C , CM000666.2:g.186284215T>C | GRCh38 |
| NC_000004.11:g.187205369T>C , CM000666.1:g.187205369T>C | GRCh37 |
| NC_000004.10:g.187442363T>C | NCBI36 |
| NG_008051.1:g.23252T>C , LRG_583:g.23252T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1259T>C MANE Select | ENSP00000384957.2:p.Ile420Thr | |
| ENST00000264692.8:c.1097T>C | ENSP00000264692.5:p.Ile366Thr | |
| ENST00000403665.6:c.1259T>C | ENSP00000384957.2:p.Ile420Thr | |
| NM_000128.3:c.1259T>C , LRG_583t1:c.1259T>C | NP_000119.1:p.Ile420Thr | |
| XM_005262821.2:c.1262T>C | XP_005262878.1:p.Ile421Thr | |
| XM_005262822.2:c.1262T>C | XP_005262879.1:p.Ile421Thr | |
| XM_005262823.2:c.992T>C | XP_005262880.1:p.Ile331Thr | |
| XM_005262824.1:c.1262T>C | XP_005262881.1:p.Ile421Thr | |
| XM_006714137.1:c.1214T>C | XP_006714200.1:p.Ile405Thr | |
| XR_938706.1:n.1667T>C | ||
| XR_938707.1:n.1667T>C | ||
| XM_005262821.4:c.1262T>C | XP_005262878.1:p.Ile421Thr | |
| XM_005262822.4:c.1262T>C | XP_005262879.1:p.Ile421Thr | |
| XM_005262823.4:c.992T>C | XP_005262880.1:p.Ile331Thr | |
| XM_006714137.3:c.1214T>C | XP_006714200.1:p.Ile405Thr | |
| XR_001741172.2:n.1733T>C | ||
| NM_000128.4:c.1259T>C MANE Select | NP_000119.1:p.Ile420Thr |