gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00095192 (AFR)
Genomes Max Group AF
0.0007079 (AFR)
Exomes Max Group AF
0.00108433 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45914467C>T , CM000673.2:g.45914467C>T | GRCh38 |
| NC_000011.9:g.45936018C>T , CM000673.1:g.45936018C>T | GRCh37 |
| NC_000011.8:g.45892594C>T | NCBI36 |
| NG_008460.1:g.8657G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378750.10:c.543G>A MANE Select | ENSP00000368024.5:p.Thr181= | |
| ENST00000241041.7:c.543G>A | ENSP00000241041.3:p.Thr181= | |
| ENST00000378750.9:c.543G>A | ENSP00000368024.5:p.Thr181= | |
| ENST00000525192.5:c.258G>A | ENSP00000431309.1:p.Thr86= | |
| ENST00000527371.1:n.159G>A | ||
| ENST00000532554.5:n.314G>A | ||
| ENST00000532681.5:c.258G>A | ENSP00000434654.1:p.Thr86= | |
| ENST00000533151.5:c.231G>A | ENSP00000433045.1:p.Thr77= | |
| NM_004813.2:c.543G>A | NP_004804.1:p.Thr181= | |
| NM_057174.2:c.543G>A | NP_476515.1:p.Thr181= | |
| XM_011520474.1:c.420G>A | XP_011518776.1:p.Thr140= | |
| NM_004813.3:c.543G>A | NP_004804.1:p.Thr181= | |
| NM_004813.4:c.543G>A MANE Select | NP_004804.2:p.Thr181= | |
| NM_057174.3:c.543G>A | NP_476515.2:p.Thr181= |