gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008269 (NFE)
Genomes Max Group AF
0.00002847 (NFE)
Exomes Max Group AF
0.00008401 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13841704G>A , CM000667.2:g.13841704G>A | GRCh38 |
| NC_000005.9:g.13841813G>A , CM000667.1:g.13841813G>A | GRCh37 |
| NC_000005.8:g.13894813G>A | NCBI36 |
| NG_013081.1:g.107777C>T | |
| NG_013081.2:g.107777C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.5472C>T MANE Select | ENSP00000265104.4:p.Ser1824= | |
| ENST00000681290.1:c.5427C>T | ENSP00000505288.1:p.Ser1809= | |
| ENST00000265104.4:c.5472C>T | ENSP00000265104.4:p.Ser1824= | |
| NM_001369.2:c.5472C>T | NP_001360.1:p.Ser1824= | |
| XM_005248262.2:c.5427C>T | XP_005248319.1:p.Ser1809= | |
| XM_011513990.1:c.5472C>T | XP_011512292.1:p.Ser1824= | |
| XR_925598.1:n.5679C>T | ||
| XM_005248262.3:c.5580C>T | XP_005248319.2:p.Ser1860= | |
| XM_017009177.1:c.5580C>T | XP_016864666.1:p.Ser1860= | |
| XM_017009178.1:c.4485C>T | XP_016864667.1:p.Ser1495= | |
| XM_017009179.2:c.4485C>T | XP_016864668.1:p.Ser1495= | |
| XM_017009180.1:c.5580C>T | XP_016864669.1:p.Ser1860= | |
| XM_017009181.1:c.5580C>T | XP_016864670.1:p.Ser1860= | |
| XM_017009182.1:c.5580C>T | XP_016864671.1:p.Ser1860= | |
| XM_017009183.1:c.5580C>T | XP_016864672.1:p.Ser1860= | |
| XM_017009184.1:c.5580C>T | XP_016864673.1:p.Ser1860= | |
| XM_017009185.1:c.669C>T | XP_016864674.1:p.Ser223= | |
| XM_017009186.1:c.222C>T | XP_016864675.1:p.Ser74= | |
| XM_017009187.1:c.5580C>T | XP_016864676.1:p.Ser1860= | |
| XM_024454388.1:c.4485C>T | XP_024310156.1:p.Ser1495= | |
| XM_024454389.1:c.4074C>T | XP_024310157.1:p.Ser1358= | |
| XR_001742034.1:n.5597C>T | ||
| XR_001742035.1:n.5597C>T | ||
| NM_001369.3:c.5472C>T MANE Select | NP_001360.1:p.Ser1824= |