gnomAD v4:
Joint Max Group AF
0.00001454 (NFE)
Exomes Max Group AF
0.00001543 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307564G>A , CM000674.2:g.53307564G>A | GRCh38 |
| NC_000012.11:g.53701348G>A , CM000674.1:g.53701348G>A | GRCh37 |
| NC_000012.10:g.51987615G>A | NCBI36 |
| NG_016775.1:g.19065C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1566C>T MANE Select | ENSP00000209873.4:p.Ser522= | |
| ENST00000546562.6:n.2630C>T | ||
| ENST00000547238.6:n.2202C>T | ||
| ENST00000547520.6:n.1682C>T | ||
| ENST00000547757.2:c.*484C>T | ENSP00000448020.2:n.*484C>T | |
| ENST00000548931.6:c.1001C>T | ENSP00000457518.1:p.Pro334Leu | |
| ENST00000549450.6:n.1500C>T | ||
| ENST00000672797.1:n.2055C>T | ||
| ENST00000209873.8:c.1566C>T | ENSP00000209873.4:p.Ser522= | |
| ENST00000394384.7:c.1467C>T | ENSP00000377908.3:p.Ser489= | |
| ENST00000548931.5:c.1001C>T | ENSP00000457518.1:p.Pro334Leu | |
| ENST00000550286.5:c.1194C>T | ENSP00000446885.1:p.Ser398= | |
| ENST00000552876.5:n.1909C>T | ||
| NM_001173466.1:c.1467C>T | NP_001166937.1:p.Ser489= | |
| NM_015665.5:c.1566C>T | NP_056480.1:p.Ser522= | |
| XM_006719617.2:c.1581C>T | XP_006719680.1:p.Ser527= | |
| XM_011538777.1:c.1623C>T | XP_011537079.1:p.Ser541= | |
| XM_011538778.1:c.1608C>T | XP_011537080.1:p.Ser536= | |
| XM_011538779.1:c.1524C>T | XP_011537081.1:p.Ser508= | |
| XM_011538780.1:c.1509C>T | XP_011537082.1:p.Ser503= | |
| XM_011538781.1:c.957C>T | XP_011537083.1:p.Ser319= | |
| XM_011538778.2:c.1608C>T | XP_011537080.1:p.Ser536= | |
| XM_011538780.2:c.1509C>T | XP_011537082.1:p.Ser503= | |
| XR_001748875.2:n.1623C>T | ||
| NM_015665.6:c.1566C>T MANE Select | NP_056480.1:p.Ser522= | |
| NM_001173466.2:c.1467C>T | NP_001166937.1:p.Ser489= |