Revel Score:
ENST00000518018
0.209
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00160387 (AFR)
Genomes Max Group AF
0.00171835 (AFR)
Exomes Max Group AF
0.0012395 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.115414932C>T , CM000670.2:g.115414932C>T | GRCh38 |
| NC_000008.10:g.116427160C>T , CM000670.1:g.116427160C>T | GRCh37 |
| NC_000008.9:g.116496336C>T | NCBI36 |
| NG_012383.3:g.259070G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395715.8:c.2976G>A MANE Select | ENSP00000379065.3:p.Pro992= | |
| ENST00000640765.1:c.2937G>A | ENSP00000492037.1:p.Pro979= | |
| ENST00000220888.9:c.2937G>A | ENSP00000220888.5:p.Pro979= | |
| ENST00000395715.7:c.2976G>A | ENSP00000379065.3:p.Pro992= | |
| ENST00000518018.1:c.310G>A | ||
| ENST00000519076.5:c.2199G>A | ENSP00000428910.1:p.Pro733= | |
| ENST00000520276.5:c.2949G>A | ENSP00000428680.1:p.Pro983= | |
| NM_001282902.2:c.2949G>A | NP_001269831.1:p.Pro983= | |
| NM_001282903.2:c.2955G>A | NP_001269832.1:p.Pro985= | |
| NM_014112.4:c.2976G>A | NP_054831.2:p.Pro992= | |
| XM_005251049.2:c.2937G>A | XP_005251106.1:p.Pro979= | |
| XM_006716625.1:c.2976G>A | XP_006716688.1:p.Pro992= | |
| XM_011517264.1:c.2976G>A | XP_011515566.1:p.Pro992= | |
| XM_011517265.1:c.2976G>A | XP_011515567.1:p.Pro992= | |
| XM_011517266.1:c.2976G>A | XP_011515568.1:p.Pro992= | |
| XM_011517267.1:c.2955G>A | XP_011515569.1:p.Pro985= | |
| XM_011517268.1:c.2937G>A | XP_011515570.1:p.Pro979= | |
| NM_001330599.1:c.2937G>A | NP_001317528.1:p.Pro979= | |
| XM_011517264.2:c.2976G>A | XP_011515566.1:p.Pro992= | |
| XM_011517266.3:c.2976G>A | XP_011515568.1:p.Pro992= | |
| XM_011517268.2:c.2937G>A | XP_011515570.1:p.Pro979= | |
| NM_001282902.3:c.2949G>A | NP_001269831.1:p.Pro983= | |
| NM_001282903.3:c.2955G>A | NP_001269832.1:p.Pro985= | |
| NM_001330599.2:c.2937G>A | NP_001317528.1:p.Pro979= | |
| NM_014112.5:c.2976G>A MANE Select | NP_054831.2:p.Pro992= |