gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002907 (NFE)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.00002711 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22259545A>C , CM000673.2:g.22259545A>C | GRCh38 |
| NC_000011.9:g.22281091A>C , CM000673.1:g.22281091A>C | GRCh37 |
| NC_000011.8:g.22237667A>C | NCBI36 |
| NG_015844.1:g.71370A>C , LRG_868:g.71370A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682266.1:c.984A>C | ENSP00000507766.1:p.Val328= | |
| ENST00000682341.1:c.1392A>C | ENSP00000508251.1:p.Val464= | |
| ENST00000683197.1:c.1392A>C | ENSP00000507641.1:p.Val464= | |
| ENST00000683411.1:c.984A>C | ENSP00000508397.1:p.Val328= | |
| ENST00000683437.1:c.984A>C | ENSP00000508408.1:p.Val328= | |
| ENST00000683613.1:n.2428A>C | ||
| ENST00000684663.1:c.1389A>C | ENSP00000508009.1:p.Val463= | |
| ENST00000324559.9:c.1434A>C MANE Select | ENSP00000315371.9:p.Val478= | |
| ENST00000648804.1:n.1769A>C | ||
| ENST00000324559.8:c.1434A>C | ENSP00000315371.8:p.Val478= | |
| NM_001142649.1:c.1431A>C | NP_001136121.1:p.Val477= | |
| NM_213599.2:c.1434A>C , LRG_868t1:c.1434A>C | NP_998764.1:p.Val478= | |
| XM_005252820.2:c.1392A>C | XP_005252877.2:p.Val464= | |
| XM_005252821.2:c.1389A>C | XP_005252878.2:p.Val463= | |
| XM_005252822.3:c.1356A>C | XP_005252879.1:p.Val452= | |
| XM_005252823.3:c.1353A>C | XP_005252880.1:p.Val451= | |
| XM_011519949.1:c.1341A>C | XP_011518251.1:p.Val447= | |
| XM_005252820.3:c.1392A>C | XP_005252877.2:p.Val464= | |
| XM_005252821.3:c.1389A>C | XP_005252878.2:p.Val463= | |
| XM_005252822.4:c.1356A>C | XP_005252879.1:p.Val452= | |
| XM_011519949.2:c.1341A>C | XP_011518251.1:p.Val447= | |
| NM_001142649.2:c.1431A>C | NP_001136121.1:p.Val477= | |
| NM_213599.3:c.1434A>C MANE Select | NP_998764.1:p.Val478= |