gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150928107A>G , CM000665.2:g.150928107A>G | GRCh38 |
| NC_000003.11:g.150645894A>G , CM000665.1:g.150645894A>G | GRCh37 |
| NC_000003.10:g.152128584A>G | NCBI36 |
| NG_009168.1:g.49893T>C , LRG_700:g.49893T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.528T>C MANE Select | ENSP00000322280.1:p.Tyr176= | |
| ENST00000468836.2:c.676T>C | ENSP00000419892.2:n.676T>C | |
| ENST00000295911.6:c.300T>C | ENSP00000295911.2:p.Tyr100= | |
| ENST00000327047.5:c.528T>C | ENSP00000322280.1:p.Tyr176= | |
| ENST00000328863.8:c.567T>C | ENSP00000329158.4:p.Tyr189= | |
| ENST00000468836.1:c.300T>C | ENSP00000419892.1:p.Tyr100= | |
| ENST00000562308.5:c.104+13475T>C | ||
| ENST00000565169.1:c.162+13475T>C | ||
| ENST00000569170.5:c.162+13475T>C | ||
| NM_001195794.1:c.567T>C , LRG_700t1:c.567T>C | NP_001182723.1:p.Tyr189= | |
| NM_001256819.1:c.*142T>C | NP_001243748.1:n.*142T>C | |
| NM_052995.2:c.300T>C , LRG_700t2:c.300T>C | NP_443721.1:p.Tyr100= | |
| NM_174878.2:c.528T>C | NP_777367.1:p.Tyr176= | |
| NR_046380.2:n.1009T>C | ||
| XR_924167.1:n.840T>C | ||
| NM_001256819.2:c.*142T>C | NP_001243748.1:n.*142T>C | |
| NM_174878.3:c.528T>C MANE Select | NP_777367.1:p.Tyr176= | |
| NR_046380.3:n.737T>C |