gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000977 (NFE)
Exomes Max Group AF
0.00000956 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89631662C>A , CM000677.2:g.89631662C>A | GRCh38 |
| NC_000015.9:g.90174893C>A , CM000677.1:g.90174893C>A | GRCh37 |
| NC_000015.8:g.87975897C>A | NCBI36 |
| NG_030338.1:g.28790G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696512.1:c.3067G>T | ENSP00000512678.1:p.Glu1023Ter | |
| ENST00000394412.8:c.2944G>T MANE Select | ENSP00000377934.3:p.Glu982Ter | |
| ENST00000677187.1:n.618G>T | ||
| ENST00000394412.7:c.2944G>T | ENSP00000377934.3:p.Glu982Ter | |
| NM_198525.2:c.2944G>T | NP_940927.2:p.Glu982Ter | |
| XM_005254902.2:c.2944G>T | XP_005254959.1:p.Glu982Ter | |
| XM_011521531.1:c.3067G>T | XP_011519833.1:p.Glu1023Ter | |
| XM_011521532.1:c.3064G>T | XP_011519834.1:p.Glu1022Ter | |
| XM_011521533.1:c.3064G>T | XP_011519835.1:p.Glu1022Ter | |
| XM_011521534.1:c.3067G>T | XP_011519836.1:p.Glu1023Ter | |
| XM_011521535.1:c.3067G>T | XP_011519837.1:p.Glu1023Ter | |
| XM_011521536.1:c.3067G>T | XP_011519838.1:p.Glu1023Ter | |
| XM_011521531.2:c.3067G>T | XP_011519833.1:p.Glu1023Ter | |
| NM_198525.3:c.2944G>T MANE Select | NP_940927.2:p.Glu982Ter |