Revel Score:
ENST00000267622 (MANE Select)
0.118
ENST00000542257
0.118
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00358715 (NFE)
Genomes Max Group AF
0.00389089 (AMR)
Exomes Max Group AF
0.00359536 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92004372T>G , CM000676.2:g.92004372T>G | GRCh38 |
| NC_000014.8:g.92470716T>G , CM000676.1:g.92470716T>G | GRCh37 |
| NC_000014.7:g.91540469T>G | NCBI36 |
| NG_016970.1:g.40688A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.3604A>C MANE Select | ENSP00000267622.4:p.Asn1202His | |
| ENST00000554357.5:c.2750A>C | ||
| NM_004239.3:c.3604A>C | NP_004230.2:p.Asn1202His | |
| XM_005268214.2:c.2278A>C | XP_005268271.1:p.Asn760His | |
| XM_005268215.2:c.1527+3268A>C | XP_005268272.1:n.1527+3268A>C | |
| XM_006720321.2:c.3601A>C | XP_006720384.1:p.Asn1201His | |
| XM_011537361.1:c.3604A>C | XP_011535663.1:p.Asn1202His | |
| XR_943560.1:n.4059A>C | ||
| NM_001321851.1:c.3601A>C | NP_001308780.1:p.Asn1201His | |
| NM_004239.4:c.3604A>C MANE Select | NP_004230.2:p.Asn1202His | |
| XM_017021787.2:c.2899A>C | XP_016877276.1:p.Asn967His | |
| XM_017021788.2:c.2278A>C | XP_016877277.1:p.Asn760His | |
| XR_001750598.2:n.4053A>C | ||
| XR_943560.2:n.4053A>C |