gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.000527 (NFE)
Genomes Max Group AF
0.00024289 (NFE)
Exomes Max Group AF
0.00053853 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150972483A>G , CM000665.2:g.150972483A>G | GRCh38 |
| NC_000003.11:g.150690270A>G , CM000665.1:g.150690270A>G | GRCh37 |
| NC_000003.10:g.152172960A>G | NCBI36 |
| NG_009168.1:g.5517T>C , LRG_700:g.5517T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.226T>C MANE Select | ENSP00000322280.1:p.Leu76= | |
| ENST00000468836.2:c.202T>C | ENSP00000419892.2:p.Leu68= | |
| ENST00000644099.1:c.67T>C | ENSP00000494762.1:p.Leu23= | |
| ENST00000645441.1:c.68T>C | ||
| ENST00000327047.5:c.226T>C | ENSP00000322280.1:p.Leu76= | |
| ENST00000328863.8:c.226T>C | ENSP00000329158.4:p.Leu76= | |
| ENST00000468836.1:c.-175T>C | ENSP00000419892.1:n.-175T>C | |
| ENST00000472224.1:n.232T>C | ||
| NM_001195794.1:c.226T>C , LRG_700t1:c.226T>C | NP_001182723.1:p.Leu76= | |
| NM_001256819.1:c.226T>C | NP_001243748.1:p.Leu76= | |
| NM_174878.2:c.226T>C | NP_777367.1:p.Leu76= | |
| NR_046380.2:n.517T>C | ||
| XR_924167.1:n.538T>C | ||
| NM_001256819.2:c.226T>C | NP_001243748.1:p.Leu76= | |
| NM_174878.3:c.226T>C MANE Select | NP_777367.1:p.Leu76= | |
| NR_046380.3:n.245T>C |