gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001326 (AMR)
Exomes Max Group AF
0.00001779 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25813962G>A , CM000663.2:g.25813962G>A | GRCh38 |
| NC_000001.10:g.26140453G>A , CM000663.1:g.26140453G>A | GRCh37 |
| NC_000001.9:g.26013040G>A | NCBI36 |
| NG_009930.1:g.18787G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354177.9:c.1298G>A | ENSP00000346109.5:p.Trp433Ter | |
| ENST00000494537.2:c.1456G>A | ENSP00000508308.1:p.Gly486Ser | |
| ENST00000361547.7:c.1469G>A MANE Select | ENSP00000355141.2:p.Trp490Ter | |
| ENST00000354177.8:c.1367G>A | ENSP00000346109.4:p.Trp456Ter | |
| ENST00000361547.6:c.1469G>A | ENSP00000355141.2:p.Trp490Ter | |
| ENST00000374315.1:c.1367G>A | ENSP00000363434.1:p.Trp456Ter | |
| ENST00000494537.1:n.236G>A | ||
| ENST00000559265.1:n.255+2083G>A | ||
| ENST00000630065.2:c.-104G>A | ENSP00000487549.1:n.-104G>A | |
| NM_020451.2:c.1469G>A | NP_065184.2:p.Trp490Ter | |
| NM_206926.1:c.1367G>A | NP_996809.1:p.Trp456Ter | |
| NM_020451.3:c.1469G>A MANE Select | NP_065184.2:p.Trp490Ter | |
| NM_206926.2:c.1367G>A | NP_996809.1:p.Trp456Ter |