gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00016775 (AMR)
Genomes Max Group AF
0.00050875 (AMR)
Exomes Max Group AF
0.00002263 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41474502G>A , CM000685.2:g.41474502G>A | GRCh38 |
| NC_000023.10:g.41333755G>A , CM000685.1:g.41333755G>A | GRCh37 |
| NC_000023.9:g.41218699G>A | NCBI36 |
| NG_009112.1:g.32043G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342595.3:c.1034G>A | ENSP00000340328.3:p.Trp345Ter | |
| ENST00000378220.3:c.1034G>A MANE Select | ENSP00000367465.2:p.Trp345Ter | |
| ENST00000378220.2:c.1049G>A | ENSP00000367465.1:p.Trp350Ter | |
| ENST00000342595.2:c.1049G>A | ENSP00000340328.2:p.Trp350Ter | |
| ENST00000378220.1:c.1049G>A | ENSP00000367465.1:p.Trp350Ter | |
| NM_022567.2:c.1049G>A | NP_072089.1:p.Trp350Ter | |
| XM_005272632.2:c.1049G>A | XP_005272689.1:p.Trp350Ter | |
| XM_017029709.1:c.1049G>A | XP_016885198.1:p.Trp350Ter | |
| NM_001378477.3:c.1034G>A MANE Select | NP_001365406.2:p.Trp345Ter | |
| NM_022567.3:c.1034G>A | NP_072089.2:p.Trp345Ter |