gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000888 (SAS)
Exomes Max Group AF
0.00000938 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39120375C>T , CM000664.2:g.39120375C>T | GRCh38 |
| NC_000002.11:g.39347516C>T , CM000664.1:g.39347516C>T | GRCh37 |
| NC_000002.10:g.39201020C>T | NCBI36 |
| NG_007530.1:g.5089G>A , LRG_754:g.5089G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461545.2:n.75G>A | ||
| ENST00000689668.1:n.55G>A | ||
| ENST00000690679.1:c.187+3784G>A | ||
| ENST00000690876.1:c.48G>A | ENSP00000508955.1:p.Ala16= | |
| ENST00000691229.1:c.48G>A | ENSP00000510437.1:p.Ala16= | |
| ENST00000692089.1:c.48G>A | ENSP00000508626.1:p.Ala16= | |
| ENST00000402219.8:c.48G>A MANE Select | ENSP00000384675.2:p.Ala16= | |
| ENST00000395038.6:c.48G>A | ENSP00000378479.2:p.Ala16= | |
| ENST00000402219.6:c.48G>A | ENSP00000384675.2:p.Ala16= | |
| ENST00000426016.5:c.48G>A | ENSP00000387784.1:p.Ala16= | |
| ENST00000451331.1:c.-85+3784G>A | ENSP00000393899.1:n.-85+3784G>A | |
| NM_005633.3:c.48G>A , LRG_754t1:c.48G>A | NP_005624.2:p.Ala16= | |
| XM_005264515.3:c.48G>A | XP_005264572.1:p.Ala16= | |
| XM_011533062.1:c.66+4289G>A | XP_011531364.1:n.66+4289G>A | |
| XM_005264515.4:c.48G>A | XP_005264572.1:p.Ala16= | |
| XM_011533062.2:c.66+4289G>A | XP_011531364.1:n.66+4289G>A | |
| NM_001382394.1:c.66+4289G>A | NP_001369323.1:n.66+4289G>A | |
| NM_001382395.1:c.48G>A | NP_001369324.1:p.Ala16= | |
| NM_005633.4:c.48G>A MANE Select | NP_005624.2:p.Ala16= |