gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001883 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.0000183 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169556860T>C , CM000663.2:g.169556860T>C | GRCh38 |
| NC_000001.10:g.169526098T>C , CM000663.1:g.169526098T>C | GRCh37 |
| NC_000001.9:g.167792722T>C | NCBI36 |
| NG_011806.1:g.34672A>G , LRG_553:g.34672A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.738A>G MANE Select | ENSP00000356771.3:p.Thr246= | |
| ENST00000367796.3:c.738A>G | ENSP00000356770.3:p.Thr246= | |
| ENST00000367797.7:c.738A>G | ENSP00000356771.3:p.Thr246= | |
| NM_000130.4:c.738A>G , LRG_553t1:c.738A>G | NP_000121.2:p.Thr246= | |
| XM_017000660.2:c.327A>G | XP_016856149.1:p.Thr109= | |
| NM_000130.5:c.738A>G MANE Select | NP_000121.2:p.Thr246= |