gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0067361 (AFR)
Genomes Max Group AF
0.00655082 (AFR)
Exomes Max Group AF
0.00649326 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102434287C>T , CM000676.2:g.102434287C>T | GRCh38 |
| NC_000014.8:g.102900624C>T , CM000676.1:g.102900624C>T | GRCh37 |
| NC_000014.7:g.101970377C>T | NCBI36 |
| NG_042851.1:g.76376C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359520.12:c.1470C>T MANE Select | ENSP00000352510.7:p.Ser490= | |
| ENST00000359520.11:c.1470C>T | ENSP00000352510.7:p.Ser490= | |
| ENST00000558678.1:c.1470C>T | ENSP00000453671.1:p.Ser490= | |
| NM_001172631.1:c.1470C>T | NP_001166102.1:p.Ser490= | |
| NM_001172631.2:c.1470C>T | NP_001166102.1:p.Ser490= | |
| NM_014844.3:c.1470C>T | NP_055659.2:p.Ser490= | |
| NM_014844.4:c.1470C>T | NP_055659.2:p.Ser490= | |
| XM_005268246.2:c.1137C>T | XP_005268303.1:p.Ser379= | |
| XM_011537419.1:c.1470C>T | XP_011535721.1:p.Ser490= | |
| NM_014844.5:c.1470C>T MANE Select | NP_055659.2:p.Ser490= | |
| NM_001172631.3:c.1470C>T | NP_001166102.1:p.Ser490= |