gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0021861 (MID)
Genomes Max Group AF
0.0009185 (AMR)
Exomes Max Group AF
0.00215704 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14206862C>T , CM000679.2:g.14206862C>T | GRCh38 |
| NC_000017.10:g.14110179C>T , CM000679.1:g.14110179C>T | GRCh37 |
| NC_000017.9:g.14050904C>T | NCBI36 |
| NG_008034.1:g.142461C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.981C>T MANE Select | ENSP00000261643.3:p.Asn327= | |
| ENST00000664217.1:c.981C>T | ENSP00000499396.1:p.Asn327= | |
| ENST00000670279.1:c.929-2647C>T | ENSP00000499450.1:n.929-2647C>T | |
| ENST00000261643.7:c.981C>T | ENSP00000261643.3:p.Asn327= | |
| ENST00000580561.1:c.*470C>T | ENSP00000462190.1:n.*470C>T | |
| ENST00000581931.5:c.*349C>T | ENSP00000462512.1:n.*349C>T | |
| NM_001303.3:c.981C>T | NP_001294.2:p.Asn327= | |
| XM_011523657.1:c.748C>T | XP_011521959.1:p.Arg250Cys | |
| XM_011523658.1:c.405C>T | XP_011521960.1:p.Asn135= | |
| XR_933974.1:n.1032-2647C>T | ||
| NM_001303.4:c.981C>T MANE Select | NP_001294.2:p.Asn327= |