Revel Score:
ENST00000314218 (MANE Select)
0.114
ENST00000542236
0.114
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02689972 (AFR)
Genomes Max Group AF
0.02559862 (AFR)
Exomes Max Group AF
0.02760449 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122742606T>G , CM000666.2:g.122742606T>G | GRCh38 |
| NC_000004.11:g.123663761T>G , CM000666.1:g.123663761T>G | GRCh37 |
| NC_000004.10:g.123883211T>G | NCBI36 |
| NG_021203.1:g.14905T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314218.8:c.714T>G MANE Select | ENSP00000319062.3:p.Asn238Lys | |
| ENST00000314218.7:c.714T>G | ENSP00000319062.3:p.Asn238Lys | |
| ENST00000542236.5:c.714T>G | ENSP00000438273.1:p.Asn238Lys | |
| NM_001178007.1:c.714T>G | NP_001171478.1:p.Asn238Lys | |
| NM_152618.2:c.714T>G | NP_689831.2:p.Asn238Lys | |
| XM_011531680.1:c.714T>G | XP_011529982.1:p.Asn238Lys | |
| XM_011531680.2:c.714T>G | XP_011529982.1:p.Asn238Lys | |
| XM_017007831.1:c.714T>G | XP_016863320.1:p.Asn238Lys | |
| NM_152618.3:c.714T>G MANE Select | NP_689831.2:p.Asn238Lys | |
| NM_001178007.2:c.714T>G | NP_001171478.1:p.Asn238Lys |