gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01611662 (NFE)
Genomes Max Group AF
0.0138851 (NFE)
Exomes Max Group AF
0.01621263 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63035706C>T , CM000670.2:g.63035706C>T | GRCh38 |
| NC_000008.10:g.63948265C>T , CM000670.1:g.63948265C>T | GRCh37 |
| NC_000008.9:g.64110819C>T | NCBI36 |
| NG_028126.1:g.8346G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260118.7:c.174G>A MANE Select | ENSP00000260118.6:p.Ala58= | |
| ENST00000518113.2:c.174G>A | ENSP00000504520.1:p.Ala58= | |
| ENST00000518466.6:n.137G>A | ||
| ENST00000523788.2:n.201G>A | ||
| ENST00000677327.1:n.813G>A | ||
| ENST00000677459.1:c.*89G>A | ENSP00000503731.1:n.*89G>A | |
| ENST00000677482.1:c.174G>A | ENSP00000504590.1:p.Ala58= | |
| ENST00000678045.1:n.1129G>A | ||
| ENST00000678069.1:n.208G>A | ||
| ENST00000679326.1:c.174G>A | ENSP00000504262.1:p.Ala58= | |
| ENST00000260118.6:c.174G>A | ENSP00000260118.6:p.Ala58= | |
| ENST00000518966.5:n.207G>A | ||
| ENST00000520609.5:n.207G>A | ||
| ENST00000523788.1:n.208G>A | ||
| NM_003878.2:c.174G>A | NP_003869.1:p.Ala58= | |
| XM_011517623.1:c.174G>A | XP_011515925.1:p.Ala58= | |
| XM_011517623.3:c.174G>A | XP_011515925.1:p.Ala58= | |
| NM_003878.3:c.174G>A MANE Select | NP_003869.1:p.Ala58= |