gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00207381 (AFR)
Genomes Max Group AF
0.0019127 (AFR)
Exomes Max Group AF
0.00202192 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17498209G>A , CM000673.2:g.17498209G>A | GRCh38 |
| NC_000011.9:g.17519756G>A , CM000673.1:g.17519756G>A | GRCh37 |
| NC_000011.8:g.17476332G>A | NCBI36 |
| NG_011883.1:g.51208C>T | |
| NG_011883.2:g.51208C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005226.12:c.2443C>T MANE Select | ENSP00000005226.7:p.Leu815= | |
| ENST00000318024.9:c.1543C>T MANE Plus Clinical | ENSP00000317018.4:p.Leu515= | |
| ENST00000005226.11:c.2443C>T | ENSP00000005226.7:p.Leu815= | |
| ENST00000318024.8:c.1543C>T | ENSP00000317018.4:p.Leu515= | |
| ENST00000526313.5:c.*257C>T | ENSP00000432236.1:n.*257C>T | |
| ENST00000527020.5:c.1486C>T | ENSP00000436934.1:p.Leu496= | |
| ENST00000527720.5:c.1450C>T | ENSP00000432944.1:p.Leu484= | |
| ENST00000529563.5:n.427C>T | ||
| NM_001297764.1:c.1486C>T | NP_001284693.1:p.Leu496= | |
| NM_005709.3:c.1543C>T | NP_005700.2:p.Leu515= | |
| NM_153676.3:c.2443C>T | NP_710142.1:p.Leu815= | |
| NR_123738.1:n.1578C>T | ||
| XM_011519831.1:c.2467C>T | XP_011518133.1:p.Leu823= | |
| XM_011519832.1:c.1696C>T | XP_011518134.1:p.Leu566= | |
| XM_011519832.3:c.1696C>T | XP_011518134.1:p.Leu566= | |
| XM_017017075.1:c.2443C>T | XP_016872564.1:p.Leu815= | |
| XR_001747717.2:n.1702C>T | ||
| NM_153676.4:c.2443C>T MANE Select | NP_710142.1:p.Leu815= | |
| NM_001297764.2:c.1486C>T | NP_001284693.1:p.Leu496= | |
| NM_005709.4:c.1543C>T MANE Plus Clinical | NP_005700.2:p.Leu515= | |
| NR_123738.2:n.1578C>T |