ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00047457 (NFE)
Genomes Max Group AF
0.00024283 (NFE)
Exomes Max Group AF
0.00050169 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128330672T>C , CM000667.2:g.128330672T>C | GRCh38 |
| NC_000005.9:g.127666364T>C , CM000667.1:g.127666364T>C | GRCh37 |
| NC_000005.8:g.127694263T>C | NCBI36 |
| NG_008750.1:g.212372A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.1030A>G | ||
| ENST00000703785.1:n.1111A>G | ||
| ENST00000262464.9:c.4246A>G MANE Select | ENSP00000262464.4:p.Thr1416Ala | |
| ENST00000262464.8:c.4246A>G | ENSP00000262464.4:p.Thr1416Ala | |
| ENST00000507835.5:c.796A>G | ENSP00000426839.1:p.Thr266Ala | |
| ENST00000508053.5:c.4246A>G | ENSP00000424571.1:p.Thr1416Ala | |
| ENST00000508989.5:c.4147A>G | ENSP00000425596.1:p.Thr1383Ala | |
| ENST00000619499.4:c.4243A>G | ENSP00000482132.1:p.Thr1415Ala | |
| NM_001999.3:c.4246A>G | NP_001990.2:p.Thr1416Ala | |
| XM_017009228.2:c.4093A>G | XP_016864717.1:p.Thr1365Ala | |
| NM_001999.4:c.4246A>G MANE Select | NP_001990.2:p.Thr1416Ala |