ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0004021 (AFR)
Genomes Max Group AF
0.00033867 (AFR)
Exomes Max Group AF
0.0003711 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128344406T>G , CM000667.2:g.128344406T>G | GRCh38 |
| NC_000005.9:g.127680098T>G , CM000667.1:g.127680098T>G | GRCh37 |
| NC_000005.8:g.127707997T>G | NCBI36 |
| NG_008750.1:g.198638A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.3322A>C MANE Select | ENSP00000262464.4:p.Met1108Leu | |
| ENST00000262464.8:c.3322A>C | ENSP00000262464.4:p.Met1108Leu | |
| ENST00000508053.5:c.3322A>C | ENSP00000424571.1:p.Met1108Leu | |
| ENST00000508989.5:c.3223A>C | ENSP00000425596.1:p.Met1075Leu | |
| ENST00000619499.4:c.3319A>C | ENSP00000482132.1:p.Met1107Leu | |
| NM_001999.3:c.3322A>C | NP_001990.2:p.Met1108Leu | |
| XM_017009228.2:c.3169A>C | XP_016864717.1:p.Met1057Leu | |
| NM_001999.4:c.3322A>C MANE Select | NP_001990.2:p.Met1108Leu |