Revel Score:
ENST00000234371 (MANE Select)
0.256
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00043716 (MID)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00045944 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.918604T>C , CM000681.2:g.918604T>C | GRCh38 |
| NC_000019.9:g.918604T>C , CM000681.1:g.918604T>C | GRCh37 |
| NC_000019.8:g.869604T>C | NCBI36 |
| NG_008277.1:g.6263T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234371.10:c.305T>C MANE Select | ENSP00000234371.3:p.Leu102Pro | |
| ENST00000234371.9:c.305T>C | ENSP00000234371.3:p.Leu102Pro | |
| ENST00000592648.1:c.244+858T>C | ENSP00000467666.1:n.244+858T>C | |
| ENST00000606939.2:c.305T>C | ENSP00000475639.1:p.Leu102Pro | |
| NM_032551.4:c.305T>C | NP_115940.2:p.Leu102Pro | |
| XM_017027382.1:c.305T>C | XP_016882871.1:p.Leu102Pro | |
| NM_032551.5:c.305T>C MANE Select | NP_115940.2:p.Leu102Pro |