Revel Score:
ENST00000399271
0.600
ENST00000282478
0.600
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87610957C>T , CM000666.2:g.87610957C>T | GRCh38 |
| NC_000004.11:g.88532109C>T , CM000666.1:g.88532109C>T | GRCh37 |
| NC_000004.10:g.88751133C>T | NCBI36 |
| NG_011595.1:g.7429C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651931.1:c.49C>T MANE Select | ENSP00000498766.1:p.Pro17Ser | |
| ENST00000282478.7:c.49C>T | ENSP00000282478.7:p.Pro17Ser | |
| ENST00000399271.5:c.49C>T | ENSP00000382213.1:p.Pro17Ser | |
| NM_014208.3:c.49C>T MANE Select | NP_055023.2:p.Pro17Ser |