gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150972611C>T , CM000665.2:g.150972611C>T | GRCh38 |
| NC_000003.11:g.150690398C>T , CM000665.1:g.150690398C>T | GRCh37 |
| NC_000003.10:g.152173088C>T | NCBI36 |
| NG_009168.1:g.5389G>A , LRG_700:g.5389G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.98G>A MANE Select | ENSP00000322280.1:p.Trp33Ter | |
| ENST00000468836.2:c.74G>A | ENSP00000419892.2:p.Trp25Ter | |
| ENST00000327047.5:c.98G>A | ENSP00000322280.1:p.Trp33Ter | |
| ENST00000328863.8:c.98G>A | ENSP00000329158.4:p.Trp33Ter | |
| ENST00000468836.1:c.-303G>A | ENSP00000419892.1:n.-303G>A | |
| ENST00000472224.1:n.104G>A | ||
| NM_001195794.1:c.98G>A , LRG_700t1:c.98G>A | NP_001182723.1:p.Trp33Ter | |
| NM_001256819.1:c.98G>A | NP_001243748.1:p.Trp33Ter | |
| NM_174878.2:c.98G>A | NP_777367.1:p.Trp33Ter | |
| NR_046380.2:n.389G>A | ||
| XR_924167.1:n.410G>A | ||
| NM_001256819.2:c.98G>A | NP_001243748.1:p.Trp33Ter | |
| NM_174878.3:c.98G>A MANE Select | NP_777367.1:p.Trp33Ter | |
| NR_046380.3:n.117G>A |