ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00181702 (NFE)
Genomes Max Group AF
0.00131705 (NFE)
Exomes Max Group AF
0.00183477 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132166858G>A , CM000671.2:g.132166858G>A | GRCh38 |
| NC_000009.11:g.135042245G>A , CM000671.1:g.135042245G>A | GRCh37 |
| NC_000009.10:g.134032066G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393229.4:c.27G>A MANE Select | ENSP00000376921.3:p.Leu9= | |
| ENST00000372179.7:c.27G>A | ENSP00000361252.3:p.Leu9= | |
| ENST00000393229.3:c.27G>A | ENSP00000376921.3:p.Leu9= | |
| NM_032536.2:c.27G>A | NP_115925.2:p.Leu9= | |
| XM_006717304.2:c.27G>A | XP_006717367.1:p.Leu9= | |
| XM_011519094.1:c.27G>A | XP_011517396.1:p.Leu9= | |
| XM_011519095.1:c.27G>A | XP_011517397.1:p.Leu9= | |
| XM_011519096.1:c.27G>A | XP_011517398.1:p.Leu9= | |
| XM_011519097.1:c.27G>A | XP_011517399.1:p.Leu9= | |
| XM_011519098.1:c.27G>A | XP_011517400.1:p.Leu9= | |
| XM_011519099.1:c.27G>A | XP_011517401.1:p.Leu9= | |
| XM_011519100.1:c.27G>A | XP_011517402.1:p.Leu9= | |
| XM_011519101.1:c.27G>A | XP_011517403.1:p.Leu9= | |
| XM_011519102.1:c.27G>A | XP_011517404.1:p.Leu9= | |
| XM_011519103.1:c.27G>A | XP_011517405.1:p.Leu9= | |
| XM_011519104.1:c.27G>A | XP_011517406.1:p.Leu9= | |
| XM_011519105.1:c.27G>A | XP_011517407.1:p.Leu9= | |
| XM_011519106.1:c.27G>A | XP_011517408.1:p.Leu9= | |
| XM_011519107.1:c.27G>A | XP_011517409.1:p.Leu9= | |
| XM_011519108.1:c.27G>A | XP_011517410.1:p.Leu9= | |
| XM_011519109.1:c.27G>A | XP_011517411.1:p.Leu9= | |
| XM_011519110.1:c.27G>A | XP_011517412.1:p.Leu9= | |
| NM_032536.3:c.27G>A | NP_115925.2:p.Leu9= | |
| XM_006717304.3:c.27G>A | XP_006717367.1:p.Leu9= | |
| XM_011519094.2:c.27G>A | XP_011517396.1:p.Leu9= | |
| XM_011519096.2:c.27G>A | XP_011517398.1:p.Leu9= | |
| XM_011519097.3:c.27G>A | XP_011517399.1:p.Leu9= | |
| XM_011519098.2:c.27G>A | XP_011517400.1:p.Leu9= | |
| XM_011519099.2:c.27G>A | XP_011517401.1:p.Leu9= | |
| XM_011519100.2:c.27G>A | XP_011517402.1:p.Leu9= | |
| XM_011519102.2:c.27G>A | XP_011517404.1:p.Leu9= | |
| XM_011519103.2:c.27G>A | XP_011517405.1:p.Leu9= | |
| XM_011519104.3:c.27G>A | XP_011517406.1:p.Leu9= | |
| XM_011519105.2:c.27G>A | XP_011517407.1:p.Leu9= | |
| XM_011519106.2:c.27G>A | XP_011517408.1:p.Leu9= | |
| XM_011519107.2:c.27G>A | XP_011517409.1:p.Leu9= | |
| XM_011519108.2:c.27G>A | XP_011517410.1:p.Leu9= | |
| XM_011519109.2:c.27G>A | XP_011517411.1:p.Leu9= | |
| XM_011519110.2:c.27G>A | XP_011517412.1:p.Leu9= | |
| XM_017015212.1:c.27G>A | XP_016870701.1:p.Leu9= | |
| XM_017015213.1:c.27G>A | XP_016870702.1:p.Leu9= | |
| XM_017015214.1:c.27G>A | XP_016870703.1:p.Leu9= | |
| XM_017015216.1:c.27G>A | XP_016870705.1:p.Leu9= | |
| NM_032536.4:c.27G>A MANE Select | NP_115925.2:p.Leu9= |