gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00010404 (EAS)
Exomes Max Group AF
0.00011832 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214769234A>G , CM000664.2:g.214769234A>G | GRCh38 |
| NC_000002.11:g.215633958A>G , CM000664.1:g.215633958A>G | GRCh37 |
| NC_000002.10:g.215342203A>G | NCBI36 |
| NG_012047.2:g.45471T>C | |
| NG_012047.3:g.45478T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1393T>C MANE Select | ENSP00000260947.4:p.Leu465= | |
| ENST00000421162.2:c.216-16679T>C | ENSP00000392245.2:n.216-16679T>C | |
| ENST00000613192.2:c.159-38726T>C | ENSP00000483275.2:n.159-38726T>C | |
| ENST00000613374.5:c.159-16679T>C | ENSP00000484464.1:n.159-16679T>C | |
| ENST00000613706.5:c.985T>C | ENSP00000484976.2:p.Leu329= | |
| ENST00000617164.5:c.1336T>C | ENSP00000480470.1:p.Leu446= | |
| ENST00000619009.5:c.364+23063T>C | ENSP00000482293.1:n.364+23063T>C | |
| ENST00000650978.1:c.2768T>C | ||
| ENST00000260947.8:c.1393T>C | ENSP00000260947.4:p.Leu465= | |
| ENST00000421162.1:c.216-16679T>C | ENSP00000392245.1:n.216-16679T>C | |
| ENST00000455743.5:c.*1013T>C | ENSP00000412186.1:n.*1013T>C | |
| ENST00000613192.1:c.74-38726T>C | ENSP00000483275.1:n.74-38726T>C | |
| ENST00000613374.4:c.159-16679T>C | ENSP00000484464.1:n.159-16679T>C | |
| ENST00000613706.4:c.216-16679T>C | ENSP00000484976.1:n.216-16679T>C | |
| ENST00000617164.4:c.1336T>C | ENSP00000480470.1:p.Leu446= | |
| ENST00000619009.4:c.364+23063T>C | ENSP00000482293.1:n.364+23063T>C | |
| ENST00000620057.4:c.*59T>C | ENSP00000481988.1:n.*59T>C | |
| NM_000465.3:c.1393T>C | NP_000456.2:p.Leu465= | |
| NM_001282543.1:c.1336T>C | NP_001269472.1:p.Leu446= | |
| NM_001282545.1:c.216-16679T>C | NP_001269474.1:n.216-16679T>C | |
| NM_001282548.1:c.159-16679T>C | NP_001269477.1:n.159-16679T>C | |
| NM_001282549.1:c.364+23063T>C | NP_001269478.1:n.364+23063T>C | |
| NR_104212.1:n.1386T>C | ||
| NR_104215.1:n.1329T>C | ||
| NR_104216.1:n.585T>C | ||
| XM_011511567.1:c.1339T>C | XP_011509869.1:p.Leu447= | |
| XM_011511568.1:c.1393T>C | XP_011509870.1:p.Leu465= | |
| XM_017004613.1:c.1492T>C | XP_016860102.1:p.Leu498= | |
| XM_017004614.1:c.1492T>C | XP_016860103.1:p.Leu498= | |
| XR_002959322.1:n.1583T>C | ||
| NM_000465.4:c.1393T>C MANE Select | NP_000456.2:p.Leu465= | |
| NM_001282543.2:c.1336T>C | NP_001269472.1:p.Leu446= | |
| NM_001282545.2:c.216-16679T>C | NP_001269474.1:n.216-16679T>C | |
| NM_001282548.2:c.159-16679T>C | NP_001269477.1:n.159-16679T>C | |
| NM_001282549.2:c.364+23063T>C | NP_001269478.1:n.364+23063T>C | |
| NR_104212.2:n.1358T>C | ||
| NR_104215.2:n.1301T>C | ||
| NR_104216.2:n.557T>C |