gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
7.2e-7 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57041441C>T , CM000674.2:g.57041441C>T | GRCh38 |
| NC_000012.11:g.57435225C>T , CM000674.1:g.57435225C>T | GRCh37 |
| NC_000012.10:g.55721492C>T | NCBI36 |
| NG_012104.1:g.13669G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300119.8:c.1155G>A MANE Select | ENSP00000300119.3:p.Glu385= | |
| ENST00000300119.7:c.1155G>A | ENSP00000300119.3:p.Glu385= | |
| ENST00000442789.6:c.1155G>A | ENSP00000393392.2:p.Glu385= | |
| ENST00000554234.5:c.669G>A | ENSP00000451033.1:p.Glu223= | |
| NM_001256041.1:c.1155G>A | NP_001242970.1:p.Glu385= | |
| NM_005379.3:c.1155G>A | NP_005370.1:p.Glu385= | |
| XM_011538373.1:c.1155G>A | XP_011536675.1:p.Glu385= | |
| XM_011538373.2:c.1155G>A | XP_011536675.1:p.Glu385= | |
| NM_005379.4:c.1155G>A MANE Select | NP_005370.1:p.Glu385= | |
| NM_001256041.2:c.1155G>A | NP_001242970.1:p.Glu385= |