gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00194833 (NFE)
Genomes Max Group AF
0.00173921 (NFE)
Exomes Max Group AF
0.00194618 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13864484G>A , CM000667.2:g.13864484G>A | GRCh38 |
| NC_000005.9:g.13864593G>A , CM000667.1:g.13864593G>A | GRCh37 |
| NC_000005.8:g.13917593G>A | NCBI36 |
| NG_013081.1:g.84997C>T | |
| NG_013081.2:g.84997C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.4509C>T MANE Select | ENSP00000265104.4:p.Thr1503= | |
| ENST00000681290.1:c.4464C>T | ENSP00000505288.1:p.Thr1488= | |
| ENST00000265104.4:c.4509C>T | ENSP00000265104.4:p.Thr1503= | |
| NM_001369.2:c.4509C>T | NP_001360.1:p.Thr1503= | |
| XM_005248262.2:c.4464C>T | XP_005248319.1:p.Thr1488= | |
| XM_011513990.1:c.4509C>T | XP_011512292.1:p.Thr1503= | |
| XR_925598.1:n.4716C>T | ||
| XM_005248262.3:c.4617C>T | XP_005248319.2:p.Thr1539= | |
| XM_017009177.1:c.4617C>T | XP_016864666.1:p.Thr1539= | |
| XM_017009178.1:c.3522C>T | XP_016864667.1:p.Thr1174= | |
| XM_017009179.2:c.3522C>T | XP_016864668.1:p.Thr1174= | |
| XM_017009180.1:c.4617C>T | XP_016864669.1:p.Thr1539= | |
| XM_017009181.1:c.4617C>T | XP_016864670.1:p.Thr1539= | |
| XM_017009182.1:c.4617C>T | XP_016864671.1:p.Thr1539= | |
| XM_017009183.1:c.4617C>T | XP_016864672.1:p.Thr1539= | |
| XM_017009184.1:c.4617C>T | XP_016864673.1:p.Thr1539= | |
| XM_017009187.1:c.4617C>T | XP_016864676.1:p.Thr1539= | |
| XM_024454388.1:c.3522C>T | XP_024310156.1:p.Thr1174= | |
| XM_024454389.1:c.3111C>T | XP_024310157.1:p.Thr1037= | |
| XR_001742034.1:n.4634C>T | ||
| XR_001742035.1:n.4634C>T | ||
| NM_001369.3:c.4509C>T MANE Select | NP_001360.1:p.Thr1503= |