ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00688886 (AFR)
Genomes Max Group AF
0.00691341 (AFR)
Exomes Max Group AF
0.00636633 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.103236534T>A , CM000673.2:g.103236534T>A | GRCh38 |
| NC_000011.9:g.103107263T>A , CM000673.1:g.103107263T>A | GRCh37 |
| NC_000011.8:g.102612473T>A | NCBI36 |
| NG_016423.1:g.132104T>A | |
| NG_016423.2:g.132104T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650373.2:c.9814T>A MANE Plus Clinical | ENSP00000497174.1:p.Leu3272Ile | |
| ENST00000375735.7:c.9814T>A MANE Select | ENSP00000364887.2:p.Leu3272Ile | |
| ENST00000650373.1:c.9814T>A | ENSP00000497174.1:p.Leu3272Ile | |
| ENST00000334267.11:c.2205+102115T>A | ENSP00000334021.7:n.2205+102115T>A | |
| ENST00000375735.6:c.9814T>A | ENSP00000364887.2:p.Leu3272Ile | |
| ENST00000398093.7:c.9814T>A | ENSP00000381167.3:p.Leu3272Ile | |
| NM_001080463.1:c.9814T>A | NP_001073932.1:p.Leu3272Ile | |
| NM_001377.2:c.9814T>A | NP_001368.2:p.Leu3272Ile | |
| XM_006718903.2:c.9793T>A | XP_006718966.1:p.Leu3265Ile | |
| XM_017018291.1:c.9814T>A | XP_016873780.1:p.Leu3272Ile | |
| XM_017018292.1:c.9196T>A | XP_016873781.1:p.Leu3066Ile | |
| NM_001377.3:c.9814T>A MANE Select | NP_001368.2:p.Leu3272Ile | |
| NM_001080463.2:c.9814T>A MANE Plus Clinical | NP_001073932.1:p.Leu3272Ile |