Revel Score:
ENST00000264895
0.025
ENST00000512123 (MANE Select)
0.039
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00810701 (AFR)
Genomes Max Group AF
0.00834027 (AFR)
Exomes Max Group AF
0.00731326 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78540992C>G , CM000666.2:g.78540992C>G | GRCh38 |
| NC_000004.11:g.79462146C>G , CM000666.1:g.79462146C>G | GRCh37 |
| NC_000004.10:g.79681170C>G | NCBI36 |
| NG_015812.1:g.488423C>G | |
| NG_015812.2:g.488423C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512123.4:c.11907C>G MANE Select | ENSP00000422834.2:p.His3969Gln | |
| ENST00000512123.3:c.11907C>G | ENSP00000422834.2:p.His3969Gln | |
| NM_025074.6:c.11907C>G | NP_079350.5:p.His3969Gln | |
| XM_006714314.1:c.11901C>G | XP_006714377.1:p.His3967Gln | |
| XM_006714316.1:c.11679C>G | XP_006714379.1:p.His3893Gln | |
| XM_011532270.1:c.9606C>G | XP_011530572.1:p.His3202Gln | |
| XM_011532271.1:c.6795C>G | XP_011530573.1:p.His2265Gln | |
| XM_006714316.3:c.11679C>G | XP_006714379.1:p.His3893Gln | |
| NM_025074.7:c.11907C>G MANE Select | NP_079350.5:p.His3969Gln |