gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00067651 (SAS)
Genomes Max Group AF
0.00007293 (SAS)
Exomes Max Group AF
0.00069382 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78363523C>T , CM000666.2:g.78363523C>T | GRCh38 |
| NC_000004.11:g.79284677C>T , CM000666.1:g.79284677C>T | GRCh37 |
| NC_000004.10:g.79503701C>T | NCBI36 |
| NG_015812.1:g.310954C>T | |
| NG_015812.2:g.310954C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325942.11:c.2433C>T | ENSP00000326330.6:p.His811= | |
| ENST00000682513.1:c.2433C>T | ENSP00000508201.1:p.His811= | |
| ENST00000684159.1:c.2433C>T | ENSP00000506875.1:p.His811= | |
| ENST00000512123.4:c.2433C>T MANE Select | ENSP00000422834.2:p.His811= | |
| ENST00000264899.10:c.845-80580C>T | ENSP00000264899.7:n.845-80580C>T | |
| ENST00000325942.10:c.2433C>T | ENSP00000326330.6:p.His811= | |
| ENST00000512123.3:c.2433C>T | ENSP00000422834.2:p.His811= | |
| NM_001166133.1:c.2433C>T | NP_001159605.1:p.His811= | |
| NM_025074.6:c.2433C>T | NP_079350.5:p.His811= | |
| XM_006714314.1:c.2433C>T | XP_006714377.1:p.His811= | |
| XM_006714316.1:c.2433C>T | XP_006714379.1:p.His811= | |
| XM_011532270.1:c.128C>T | XP_011530572.1:p.Thr43Ile | |
| XM_006714316.3:c.2433C>T | XP_006714379.1:p.His811= | |
| NM_025074.7:c.2433C>T MANE Select | NP_079350.5:p.His811= | |
| NM_001166133.2:c.2433C>T | NP_001159605.1:p.His811= |