Revel Score:
ENST00000223642 (MANE Select)
0.034
ENST00000430906
0.034
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00885257 (EAS)
Genomes Max Group AF
0.0038341 (EAS)
Exomes Max Group AF
0.00933341 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120997683C>T , CM000671.2:g.120997683C>T | GRCh38 |
| NC_000009.11:g.123759961C>T , CM000671.1:g.123759961C>T | GRCh37 |
| NC_000009.10:g.122799782C>T | NCBI36 |
| NG_007364.1:g.57594G>A , LRG_28:g.57594G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696279.1:c.2974G>A | ||
| ENST00000696280.1:n.2743G>A | ||
| ENST00000696281.1:c.2672G>A | ENSP00000512521.1:p.Arg891His | |
| ENST00000697921.1:n.1532G>A | ||
| ENST00000697922.1:c.*2644G>A | ENSP00000513478.1:n.*2644G>A | |
| ENST00000697923.1:n.3259G>A | ||
| ENST00000223642.3:c.2654G>A MANE Select | ENSP00000223642.1:p.Arg885His | |
| ENST00000223642.2:c.2654G>A | ENSP00000223642.1:p.Arg885His | |
| NM_001735.2:c.2654G>A , LRG_28t1:c.2654G>A | NP_001726.2:p.Arg885His | |
| XM_011518980.1:c.2669G>A | XP_011517282.1:p.Arg890His | |
| XM_011518981.1:c.2672G>A | XP_011517283.1:p.Arg891His | |
| NM_001317163.1:c.2672G>A | NP_001304092.1:p.Arg891His | |
| NM_001317163.2:c.2672G>A | NP_001304092.1:p.Arg891His | |
| NM_001735.3:c.2654G>A MANE Select | NP_001726.2:p.Arg885His |