gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005433 (AMR)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00007281 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10641637G>A , CM000682.2:g.10641637G>A | GRCh38 |
| NC_000020.10:g.10622285G>A , CM000682.1:g.10622285G>A | GRCh37 |
| NC_000020.9:g.10570285G>A | NCBI36 |
| NG_007496.1:g.37410C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.2739C>T MANE Select | ENSP00000254958.4:p.Ser913= | |
| ENST00000617965.2:n.3328C>T | ||
| ENST00000254958.9:c.2739C>T | ENSP00000254958.4:p.Ser913= | |
| ENST00000423891.6:n.2605C>T | ||
| NM_000214.2:c.2739C>T | NP_000205.1:p.Ser913= | |
| NM_000214.3:c.2739C>T MANE Select | NP_000205.1:p.Ser913= |