Revel Score:
ENST00000279593
0.714
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13569937A>G , CM000674.2:g.13569937A>G | GRCh38 |
| NC_000012.11:g.13722871A>G , CM000674.1:g.13722871A>G | GRCh37 |
| NC_000012.10:g.13614138A>G | NCBI36 |
| NG_031854.1:g.415152T>C | |
| NG_031854.2:g.417076T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.2252T>C MANE Select | ENSP00000477455.1:p.Ile751Thr | |
| ENST00000628166.2:n.512T>C | ||
| ENST00000637214.1:c.69+38666T>C | ENSP00000489997.1:n.69+38666T>C | |
| ENST00000609686.3:c.2252T>C | ENSP00000477455.1:p.Ile751Thr | |
| ENST00000628166.1:n.512T>C | ||
| NM_000834.3:c.2252T>C | NP_000825.2:p.Ile751Thr | |
| XM_005253351.2:c.38T>C | XP_005253408.1:p.Ile13Thr | |
| XM_011520628.1:c.2252T>C | XP_011518930.1:p.Ile751Thr | |
| XM_011520629.1:c.2252T>C | XP_011518931.1:p.Ile751Thr | |
| XM_011520630.1:c.2252T>C | XP_011518932.1:p.Ile751Thr | |
| NM_000834.4:c.2252T>C | NP_000825.2:p.Ile751Thr | |
| XM_005253351.3:c.38T>C | XP_005253408.1:p.Ile13Thr | |
| XM_011520628.2:c.2252T>C | XP_011518930.1:p.Ile751Thr | |
| XM_011520629.2:c.2252T>C | XP_011518931.1:p.Ile751Thr | |
| XM_017019219.2:c.2252T>C | XP_016874708.1:p.Ile751Thr | |
| NM_000834.5:c.2252T>C MANE Select | NP_000825.2:p.Ile751Thr |