Revel Score:
ENST00000382082 (MANE Select)
0.932
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2718506C>T , CM000671.2:g.2718506C>T | GRCh38 |
| NC_000009.11:g.2718506C>T , CM000671.1:g.2718506C>T | GRCh37 |
| NC_000009.10:g.2708506C>T | NCBI36 |
| NG_012181.1:g.5981C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382082.4:c.767C>T MANE Select | ENSP00000371514.3:p.Ser256Leu | |
| ENST00000382082.3:c.767C>T | ENSP00000371514.3:p.Ser256Leu | |
| NM_133497.3:c.767C>T | NP_598004.1:p.Ser256Leu | |
| XR_929202.1:n.1268C>T | ||
| XR_929203.1:n.1268C>T | ||
| NM_133497.4:c.767C>T MANE Select | NP_598004.1:p.Ser256Leu |