Revel Score:
ENST00000318410 (MANE Select)
0.246
ENST00000517845
0.246
ENST00000523297
0.246
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000615 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000531 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.125078810C>G , CM000670.2:g.125078810C>G | GRCh38 |
| NC_000008.10:g.126091052C>G , CM000670.1:g.126091052C>G | GRCh37 |
| NC_000008.9:g.126160234C>G | NCBI36 |
| NG_012636.1:g.18010G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318410.12:c.639G>C MANE Select | ENSP00000318016.7:p.Gln213His | |
| ENST00000318410.11:c.639G>C | ENSP00000318016.7:p.Gln213His | |
| ENST00000517845.5:c.195G>C | ENSP00000429676.1:p.Gln65His | |
| ENST00000523297.5:c.195G>C | ENSP00000427946.1:p.Gln65His | |
| NM_014846.3:c.639G>C | NP_055661.3:p.Gln213His | |
| XM_005251120.2:c.195G>C | XP_005251177.1:p.Gln65His | |
| XM_011517409.1:c.639G>C | XP_011515711.1:p.Gln213His | |
| XM_011517410.1:c.639G>C | XP_011515712.1:p.Gln213His | |
| NM_001330609.1:c.195G>C | NP_001317538.1:p.Gln65His | |
| XM_017014113.2:c.639G>C | XP_016869602.1:p.Gln213His | |
| NM_014846.4:c.639G>C MANE Select | NP_055661.3:p.Gln213His | |
| NM_001330609.2:c.195G>C | NP_001317538.1:p.Gln65His |