Revel Score:
ENST00000375320
0.104
ENST00000359492
0.104
ENST00000375329
0.104
ENST00000375323
0.104
ENST00000236850 (MANE Select)
0.104
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0009792 (NFE)
Genomes Max Group AF
0.00080807 (NFE)
Exomes Max Group AF
0.00097893 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116836050C>A , CM000673.2:g.116836050C>A | GRCh38 |
| NC_000011.9:g.116706766C>A , CM000673.1:g.116706766C>A | GRCh37 |
| NC_000011.8:g.116211976C>A | NCBI36 |
| NG_012021.1:g.6573G>T , LRG_767:g.6573G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236850.5:c.562G>T MANE Select | ENSP00000236850.3:p.Ala188Ser | |
| ENST00000236850.4:c.562G>T | ENSP00000236850.3:p.Ala188Ser | |
| ENST00000359492.6:c.562G>T | ENSP00000352471.2:p.Ala188Ser | |
| ENST00000375320.5:c.562G>T | ENSP00000364469.1:p.Ala188Ser | |
| ENST00000375323.5:c.562G>T | ENSP00000364472.1:p.Ala188Ser | |
| ENST00000375329.6:c.496G>T | ENSP00000364478.2:p.Ala166Ser | |
| NM_000039.1:c.562G>T , LRG_767t1:c.562G>T | NP_000030.1:p.Ala188Ser | |
| XM_005271539.2:c.562G>T | XP_005271596.1:p.Ala188Ser | |
| XM_005271540.1:c.562G>T | XP_005271597.1:p.Ala188Ser | |
| NM_000039.2:c.562G>T | NP_000030.1:p.Ala188Ser | |
| NM_001318017.1:c.562G>T | NP_001304946.1:p.Ala188Ser | |
| NM_001318018.1:c.562G>T | NP_001304947.1:p.Ala188Ser | |
| NM_001318021.1:c.235G>T | NP_001304950.1:p.Ala79Ser | |
| NM_001318017.2:c.562G>T | NP_001304946.1:p.Ala188Ser | |
| NM_001318018.2:c.562G>T | NP_001304947.1:p.Ala188Ser | |
| NM_000039.3:c.562G>T MANE Select | NP_000030.1:p.Ala188Ser |