ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003475 (AFR)
Genomes Max Group AF
0.00000801 (AFR)
Exomes Max Group AF
0.00003986 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10651600G>A , CM000682.2:g.10651600G>A | GRCh38 |
| NC_000020.10:g.10632248G>A , CM000682.1:g.10632248G>A | GRCh37 |
| NC_000020.9:g.10580248G>A | NCBI36 |
| NG_007496.1:g.27447C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.1101C>T MANE Select | ENSP00000254958.4:p.Thr367= | |
| ENST00000617965.2:n.470C>T | ||
| ENST00000254958.9:c.1101C>T | ENSP00000254958.4:p.Thr367= | |
| ENST00000423891.6:n.967C>T | ||
| ENST00000617965.1:n.470C>T | ||
| NM_000214.2:c.1101C>T | NP_000205.1:p.Thr367= | |
| NM_000214.3:c.1101C>T MANE Select | NP_000205.1:p.Thr367= |