gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.006384 (AFR)
Genomes Max Group AF
0.00569636 (AFR)
Exomes Max Group AF
0.00679346 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10334565C>A , CM000663.2:g.10334565C>A | GRCh38 |
| NC_000001.10:g.10394623C>A , CM000663.1:g.10394623C>A | GRCh37 |
| NC_000001.9:g.10317210C>A | NCBI36 |
| NG_008069.1:g.128860C>A , LRG_252:g.128860C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696502.1:c.2832C>A | ENSP00000512668.1:p.Ile944= | |
| ENST00000696503.1:c.2895C>A | ENSP00000512669.1:p.Ile965= | |
| ENST00000696504.1:c.2895C>A | ENSP00000512670.1:p.Ile965= | |
| ENST00000676179.1:c.2970C>A MANE Select | ENSP00000502065.1:p.Ile990= | |
| ENST00000263934.10:c.2832C>A | ENSP00000263934.6:p.Ile944= | |
| ENST00000377081.5:c.2970C>A | ENSP00000366284.1:p.Ile990= | |
| ENST00000377086.5:c.2970C>A | ENSP00000366290.1:p.Ile990= | |
| ENST00000620295.2:c.2928C>A | ENSP00000478500.1:p.Ile976= | |
| ENST00000622724.3:c.2892C>A | ENSP00000480063.1:p.Ile964= | |
| NM_015074.3:c.2832C>A , LRG_252t1:c.2832C>A | NP_055889.2:p.Ile944= | |
| NM_001365951.1:c.2970C>A | NP_001352880.1:p.Ile990= | |
| NM_001365952.1:c.2970C>A | NP_001352881.1:p.Ile990= | |
| NM_001365951.3:c.2970C>A MANE Select | NP_001352880.1:p.Ile990= |