Revel Score:
ENST00000367412 (MANE Select)
0.037
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97402642 (EAS)
Genomes Max Group AF
0.95615214 (EAS)
Exomes Max Group AF
0.97393407 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197061891C>T , CM000663.2:g.197061891C>T | GRCh38 |
| NC_000001.10:g.197031021C>T , CM000663.1:g.197031021C>T | GRCh37 |
| NC_000001.9:g.195297644C>T | NCBI36 |
| NG_012065.1:g.10377G>A , LRG_550:g.10377G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367412.2:c.344G>A MANE Select | ENSP00000356382.2:p.Arg115His | |
| ENST00000367412.1:c.344G>A | ENSP00000356382.1:p.Arg115His | |
| NM_001994.2:c.344G>A , LRG_550t1:c.344G>A | NP_001985.2:p.Arg115His | |
| XM_011509283.1:c.344G>A | XP_011507585.1:p.Arg115His | |
| XM_011509284.1:c.344G>A | XP_011507586.1:p.Arg115His | |
| XM_011509285.1:c.266-18G>A | XP_011507587.1:n.266-18G>A | |
| XM_011509286.1:c.200G>A | XP_011507588.1:p.Arg67His | |
| XM_011509283.2:c.344G>A | XP_011507585.1:p.Arg115His | |
| XM_011509284.2:c.344G>A | XP_011507586.1:p.Arg115His | |
| XM_011509286.2:c.200G>A | XP_011507588.1:p.Arg67His | |
| NM_001994.3:c.344G>A MANE Select | NP_001985.2:p.Arg115His |