Revel Score:
ENST00000374708
0.268
ENST00000341947 (MANE Select)
0.268
ENST00000357486
0.268
ENST00000374714
0.268
ENST00000374713
0.268
ENST00000395197
0.268
ENST00000374712
0.268
ENST00000361917
0.268
ENST00000457788
0.268
ENST00000395194
0.268
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00556823 (SAS)
Genomes Max Group AF
0.00554739 (SAS)
Exomes Max Group AF
0.00547697 (SAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33189322G>T , CM000668.2:g.33189322G>T | GRCh38 |
| NC_000006.11:g.33157099G>T , CM000668.1:g.33157099G>T | GRCh37 |
| NC_000006.10:g.33265077G>T | NCBI36 |
| NG_011589.1:g.8147C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682718.1:n.47C>A | ||
| ENST00000341947.7:c.230C>A MANE Select | ENSP00000339915.2:p.Pro77Gln | |
| ENST00000341947.6:c.230C>A | ENSP00000339915.2:p.Pro77Gln | |
| ENST00000361917.5:c.230C>A | ENSP00000355123.1:p.Pro77Gln | |
| ENST00000374708.8:c.230C>A | ENSP00000363840.4:p.Pro77Gln | |
| ENST00000395194.1:c.230C>A | ENSP00000378620.1:p.Pro77Gln | |
| ENST00000457788.5:c.230C>A | ENSP00000405520.1:p.Pro77Gln | |
| NM_001163771.1:c.230C>A | NP_001157243.1:p.Pro77Gln | |
| NM_080679.2:c.230C>A | NP_542410.2:p.Pro77Gln | |
| NM_080680.2:c.230C>A | NP_542411.2:p.Pro77Gln | |
| NM_080681.2:c.230C>A | NP_542412.2:p.Pro77Gln | |
| XM_011514298.1:c.-617C>A | XP_011512600.1:n.-617C>A | |
| XM_017010250.1:c.230C>A | XP_016865739.1:p.Pro77Gln | |
| NM_001163771.2:c.230C>A | NP_001157243.1:p.Pro77Gln | |
| NM_080680.3:c.230C>A MANE Select | NP_542411.2:p.Pro77Gln | |
| NM_080681.3:c.230C>A | NP_542412.2:p.Pro77Gln | |
| NM_080679.3:c.230C>A | NP_542410.2:p.Pro77Gln |