Revel Score:
ENST00000254301 (MANE Select)
0.053
ENST00000554715
0.053
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.87271484 (AFR)
Genomes Max Group AF
0.86359813 (AFR)
Exomes Max Group AF
0.87885042 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.55138318A>C , CM000676.2:g.55138318A>C | GRCh38 |
| NC_000014.8:g.55605036A>C , CM000676.1:g.55605036A>C | GRCh37 |
| NC_000014.7:g.54674789A>C | NCBI36 |
| NG_017089.1:g.14102A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254301.14:c.292A>C MANE Select | ENSP00000254301.9:p.Thr98Pro | |
| ENST00000254301.13:c.292A>C | ENSP00000254301.9:p.Thr98Pro | |
| ENST00000553755.5:n.319A>C | ||
| ENST00000554715.1:c.292A>C | ENSP00000451381.1:p.Thr98Pro | |
| ENST00000556263.1:n.275A>C | ||
| ENST00000556322.1:n.365A>C | ||
| ENST00000556438.6:n.1131A>C | ||
| NM_001177388.1:c.292A>C | NP_001170859.1:p.Thr98Pro | |
| NM_002306.3:c.292A>C | NP_002297.2:p.Thr98Pro | |
| NR_003225.2:n.1336A>C | ||
| XM_011536759.1:c.292A>C | XP_011535061.1:p.Thr98Pro | |
| NM_001357678.1:c.334A>C | NP_001344607.1:p.Thr112Pro | |
| NM_002306.4:c.292A>C MANE Select | NP_002297.2:p.Thr98Pro | |
| NM_001357678.2:c.334A>C | NP_001344607.1:p.Thr112Pro |