Revel Score:
ENST00000305123 (MANE Select)
0.284
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.226796916G>T , CM000664.2:g.226796916G>T | GRCh38 |
| NC_000002.11:g.227661632G>T , CM000664.1:g.227661632G>T | GRCh37 |
| NC_000002.10:g.227369876G>T | NCBI36 |
| NG_015830.1:g.6875C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305123.6:c.1823C>A MANE Select | ENSP00000304895.4:p.Thr608Lys | |
| ENST00000305123.5:c.1823C>A | ENSP00000304895.4:p.Thr608Lys | |
| NM_005544.2:c.1823C>A | NP_005535.1:p.Thr608Lys | |
| NM_005544.3:c.1823C>A MANE Select | NP_005535.1:p.Thr608Lys |