ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005434 (AMR)
Genomes Max Group AF
0.00012877 (AMR)
Exomes Max Group AF
0.00000741 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128263559G>T , CM000667.2:g.128263559G>T | GRCh38 |
| NC_000005.9:g.127599251G>T , CM000667.1:g.127599251G>T | GRCh37 |
| NC_000005.8:g.127627150G>T | NCBI36 |
| NG_008750.1:g.279485C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703782.1:n.173C>A | ||
| ENST00000262464.9:c.8058C>A MANE Select | ENSP00000262464.4:p.Phe2686Leu | |
| ENST00000262464.8:c.8058C>A | ENSP00000262464.4:p.Phe2686Leu | |
| ENST00000508053.5:c.8058C>A | ENSP00000424571.1:p.Phe2686Leu | |
| ENST00000619499.4:c.8055C>A | ENSP00000482132.1:p.Phe2685Leu | |
| NM_001999.3:c.8058C>A | NP_001990.2:p.Phe2686Leu | |
| XM_017009228.2:c.7905C>A | XP_016864717.1:p.Phe2635Leu | |
| NM_001999.4:c.8058C>A MANE Select | NP_001990.2:p.Phe2686Leu |