Revel Score:
ENST00000216127 (MANE Select)
0.285
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.35551713C>T , CM000684.2:g.35551713C>T | GRCh38 |
| NC_000022.10:g.35947760C>T , CM000684.1:g.35947760C>T | GRCh37 |
| NC_000022.9:g.34277706C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216127.5:c.482C>T MANE Select | ENSP00000216127.4:p.Ser161Leu | |
| ENST00000216127.4:c.482C>T | ENSP00000216127.4:p.Ser161Leu | |
| NM_014310.3:c.482C>T | NP_055125.2:p.Ser161Leu | |
| XM_005261442.3:c.482C>T | XP_005261499.1:p.Ser161Leu | |
| XM_011530040.1:c.482C>T | XP_011528342.1:p.Ser161Leu | |
| NM_001366725.1:c.482C>T | NP_001353654.1:p.Ser161Leu | |
| NM_014310.4:c.482C>T MANE Select | NP_055125.2:p.Ser161Leu | |
| XM_011530040.2:c.482C>T | XP_011528342.1:p.Ser161Leu | |
| XM_017028701.1:c.518C>T | XP_016884190.1:p.Ser173Leu | |
| XM_017028702.1:c.482C>T | XP_016884191.1:p.Ser161Leu | |
| NM_001376515.1:c.482C>T | NP_001363444.1:p.Ser161Leu | |
| NM_001376516.1:c.482C>T | NP_001363445.1:p.Ser161Leu |