gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00005821 (MID)
Exomes Max Group AF
0.00006096 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162310882T>A , CM000664.2:g.162310882T>A | GRCh38 |
| NC_000002.11:g.163167392T>A , CM000664.1:g.163167392T>A | GRCh37 |
| NC_000002.10:g.162875638T>A | NCBI36 |
| NG_011495.1:g.12648A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*102A>T | ENSP00000513228.1:n.*102A>T | |
| ENST00000648433.1:c.505A>T | ENSP00000496816.1:p.Lys169Ter | |
| ENST00000649554.1:n.115A>T | ||
| ENST00000649979.2:c.505A>T MANE Select | ENSP00000497271.1:p.Lys169Ter | |
| ENST00000679938.1:c.340A>T | ENSP00000505518.1:p.Lys114Ter | |
| ENST00000263642.2:c.505A>T | ENSP00000263642.2:p.Lys169Ter | |
| ENST00000421365.2:c.505A>T | ENSP00000408450.2:p.Lys169Ter | |
| NM_022168.3:c.505A>T | NP_071451.2:p.Lys169Ter | |
| XM_011511629.1:c.505A>T | XP_011509931.1:p.Lys169Ter | |
| NM_022168.4:c.505A>T MANE Select | NP_071451.2:p.Lys169Ter |