gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00376193 (EAS)
Genomes Max Group AF
0.00104417 (EAS)
Exomes Max Group AF
0.0040179 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517576A>G , CM000669.2:g.92517576A>G | GRCh38 |
| NC_000007.13:g.92146890A>G , CM000669.1:g.92146890A>G | GRCh37 |
| NC_000007.12:g.91984826A>G | NCBI36 |
| NG_008341.1:g.15956T>C | |
| NG_008341.2:g.15956T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.939T>C MANE Select | ENSP00000248633.4:p.His313= | |
| ENST00000248633.8:c.939T>C | ENSP00000248633.4:p.His313= | |
| ENST00000428214.5:c.939T>C | ENSP00000394413.1:p.His313= | |
| ENST00000438045.5:c.274-3609T>C | ENSP00000410438.1:n.274-3609T>C | |
| ENST00000484913.5:n.978T>C | ||
| NM_000466.2:c.939T>C | NP_000457.1:p.His313= | |
| NM_001282677.1:c.939T>C | NP_001269606.1:p.His313= | |
| NM_001282678.1:c.315T>C | NP_001269607.1:p.His105= | |
| XR_242246.3:n.1035T>C | ||
| XM_017012319.2:c.-728T>C | XP_016867808.1:n.-728T>C | |
| XR_001744808.2:n.49T>C | ||
| XR_242246.5:n.986T>C | ||
| NM_000466.3:c.939T>C MANE Select | NP_000457.1:p.His313= | |
| NM_001282677.2:c.939T>C | NP_001269606.1:p.His313= | |
| NM_001282678.2:c.315T>C | NP_001269607.1:p.His105= |