gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001251 (NFE)
Exomes Max Group AF
0.00001245 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2775965G>T , CM000673.2:g.2775965G>T | GRCh38 |
| NC_000011.9:g.2797195G>T , CM000673.1:g.2797195G>T | GRCh37 |
| NC_000011.8:g.2753771G>T | NCBI36 |
| NG_008935.1:g.335975G>T , LRG_287:g.335975G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1239G>T | ENSP00000434560.2:p.Ala413= | |
| ENST00000646564.2:c.1056G>T | ENSP00000495806.2:p.Ala352= | |
| ENST00000155840.12:c.1596G>T MANE Select | ENSP00000155840.2:p.Ala532= | |
| ENST00000335475.6:c.1215G>T | ENSP00000334497.5:p.Ala405= | |
| ENST00000646564.1:c.702G>T | ENSP00000495806.1:p.Ala234= | |
| ENST00000155840.9:c.1596G>T | ENSP00000155840.2:p.Ala532= | |
| ENST00000335475.5:c.1215G>T | ENSP00000334497.5:p.Ala405= | |
| NM_000218.2:c.1596G>T , LRG_287t1:c.1596G>T | NP_000209.2:p.Ala532= | |
| NM_181798.1:c.1215G>T , LRG_287t2:c.1215G>T | NP_861463.1:p.Ala405= | |
| NM_000218.3:c.1596G>T MANE Select | NP_000209.2:p.Ala532= |