ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47441168C>G , CM000673.2:g.47441168C>G | GRCh38 |
| NC_000011.9:g.47462719C>G , CM000673.1:g.47462719C>G | GRCh37 |
| NC_000011.8:g.47419295C>G | NCBI36 |
| NG_008312.1:g.13012G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298854.7:c.957G>C MANE Select | ENSP00000298854.2:p.Val319= | |
| ENST00000298854.6:c.957G>C | ENSP00000298854.2:p.Val319= | |
| ENST00000352508.7:c.789+655G>C | ENSP00000298853.3:n.789+655G>C | |
| ENST00000524487.5:c.798G>C | ENSP00000435551.2:p.Val266= | |
| ENST00000528356.1:n.121+443G>C | ||
| ENST00000529341.1:c.789+655G>C | ENSP00000431732.1:n.789+655G>C | |
| NM_005055.4:c.957G>C | NP_005046.2:p.Val319= | |
| NM_032645.4:c.789+655G>C | NP_116034.2:n.789+655G>C | |
| XM_005253042.2:c.912+443G>C | XP_005253099.1:n.912+443G>C | |
| XM_005253043.2:c.834G>C | XP_005253100.1:p.Val278= | |
| XM_011520252.1:c.1042G>C | XP_011518554.1:p.Gly348Arg | |
| XM_011520253.1:c.981G>C | XP_011518555.1:p.Val327= | |
| XM_005253042.3:c.912+443G>C | XP_005253099.1:n.912+443G>C | |
| XM_005253043.3:c.834G>C | XP_005253100.1:p.Val278= | |
| NM_005055.5:c.957G>C MANE Select | NP_005046.2:p.Val319= | |
| NM_032645.5:c.789+655G>C | NP_116034.2:n.789+655G>C |