Revel Score:
ENST00000367797 (MANE Select)
0.342
ENST00000367796
0.342
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00208708 (AFR)
Genomes Max Group AF
0.00224421 (AFR)
Exomes Max Group AF
0.00164346 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169540685A>G , CM000663.2:g.169540685A>G | GRCh38 |
| NC_000001.10:g.169509923A>G , CM000663.1:g.169509923A>G | GRCh37 |
| NC_000001.9:g.167776547A>G | NCBI36 |
| NG_011806.1:g.50847T>C , LRG_553:g.50847T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.4405T>C MANE Select | ENSP00000356771.3:p.Ser1469Pro | |
| ENST00000367796.3:c.4420T>C | ENSP00000356770.3:p.Ser1474Pro | |
| ENST00000367797.7:c.4405T>C | ENSP00000356771.3:p.Ser1469Pro | |
| NM_000130.4:c.4405T>C , LRG_553t1:c.4405T>C | NP_000121.2:p.Ser1469Pro | |
| XM_017000660.2:c.3994T>C | XP_016856149.1:p.Ser1332Pro | |
| NM_000130.5:c.4405T>C MANE Select | NP_000121.2:p.Ser1469Pro |