gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0003497 (EAS)
Genomes Max Group AF
0.00104563 (EAS)
Exomes Max Group AF
0.00019285 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67789495T>A , CM000676.2:g.67789495T>A | GRCh38 |
| NC_000014.8:g.68256212T>A , CM000676.1:g.68256212T>A | GRCh37 |
| NC_000014.7:g.67325965T>A | NCBI36 |
| NG_011836.1:g.32095A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347230.9:c.2859A>T MANE Select | ENSP00000251119.5:p.Leu953= | |
| ENST00000676512.1:c.2859A>T | ENSP00000504552.1:p.Leu953= | |
| ENST00000676620.1:c.2859A>T | ENSP00000504587.1:p.Leu953= | |
| ENST00000678386.1:c.2859A>T | ENSP00000503677.1:p.Leu953= | |
| ENST00000347230.8:c.2859A>T | ENSP00000251119.5:p.Leu953= | |
| ENST00000554523.5:n.2996A>T | ||
| ENST00000554557.5:c.*1156A>T | ENSP00000450431.1:n.*1156A>T | |
| ENST00000555452.1:c.2859A>T | ENSP00000450603.1:p.Leu953= | |
| NM_015346.3:c.2859A>T | NP_056161.2:p.Leu953= | |
| XM_006720093.2:c.2859A>T | XP_006720156.1:p.Leu953= | |
| XM_011536606.1:c.1350A>T | XP_011534908.1:p.Leu450= | |
| XM_011536607.1:c.534A>T | XP_011534909.1:p.Leu178= | |
| XM_011536608.1:c.441A>T | XP_011534910.1:p.Leu147= | |
| XM_011536609.1:c.2859A>T | XP_011534911.1:p.Leu953= | |
| XM_011536609.2:c.2859A>T | XP_011534911.1:p.Leu953= | |
| XM_017021124.1:c.2859A>T | XP_016876613.1:p.Leu953= | |
| XM_017021125.1:c.2859A>T | XP_016876614.1:p.Leu953= | |
| XM_017021126.1:c.1350A>T | XP_016876615.1:p.Leu450= | |
| XM_017021127.2:c.534A>T | XP_016876616.1:p.Leu178= | |
| XM_017021128.1:c.441A>T | XP_016876617.1:p.Leu147= | |
| NM_015346.4:c.2859A>T MANE Select | NP_056161.2:p.Leu953= |