gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01139735 (AFR)
Genomes Max Group AF
0.011071 (AFR)
Exomes Max Group AF
0.01121128 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206142757G>A , CM000664.2:g.206142757G>A | GRCh38 |
| NC_000002.11:g.207007481G>A , CM000664.1:g.207007481G>A | GRCh37 |
| NC_000002.10:g.206715726G>A | NCBI36 |
| NG_009248.1:g.21707C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233190.11:c.1062C>T MANE Select | ENSP00000233190.5:p.Leu354= | |
| ENST00000233190.10:c.1062C>T | ENSP00000233190.5:p.Leu354= | |
| ENST00000423725.5:c.891C>T | ENSP00000397760.1:p.Leu297= | |
| ENST00000432169.5:c.729C>T | ENSP00000409689.1:p.Leu243= | |
| ENST00000440274.5:c.954C>T | ENSP00000409766.1:p.Leu318= | |
| ENST00000449699.5:c.1062C>T | ENSP00000399912.1:p.Leu354= | |
| ENST00000455934.6:c.1104C>T | ENSP00000392709.2:p.Leu368= | |
| ENST00000457011.5:c.714C>T | ENSP00000400976.1:p.Leu238= | |
| NM_001199981.1:c.954C>T | NP_001186910.1:p.Leu318= | |
| NM_001199982.1:c.729C>T | NP_001186911.1:p.Leu243= | |
| NM_001199983.1:c.891C>T | NP_001186912.1:p.Leu297= | |
| NM_001199984.1:c.1104C>T | NP_001186913.1:p.Leu368= | |
| NM_005006.6:c.1062C>T | NP_004997.4:p.Leu354= | |
| XM_017004188.2:c.303C>T | XP_016859677.1:p.Leu101= | |
| NM_001199981.2:c.954C>T | NP_001186910.1:p.Leu318= | |
| NM_001199982.2:c.729C>T | NP_001186911.1:p.Leu243= | |
| NM_001199983.2:c.891C>T | NP_001186912.1:p.Leu297= | |
| NM_005006.7:c.1062C>T MANE Select | NP_004997.4:p.Leu354= | |
| NM_001199984.2:c.1104C>T | NP_001186913.1:p.Leu368= |