gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00134141 (AFR)
Genomes Max Group AF
0.00141053 (AFR)
Exomes Max Group AF
0.00105758 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13840972C>T , CM000667.2:g.13840972C>T | GRCh38 |
| NC_000005.9:g.13841081C>T , CM000667.1:g.13841081C>T | GRCh37 |
| NC_000005.8:g.13894081C>T | NCBI36 |
| NG_013081.1:g.108509G>A | |
| NG_013081.2:g.108509G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.5643G>A MANE Select | ENSP00000265104.4:p.Thr1881= | |
| ENST00000681290.1:c.5598G>A | ENSP00000505288.1:p.Thr1866= | |
| ENST00000265104.4:c.5643G>A | ENSP00000265104.4:p.Thr1881= | |
| NM_001369.2:c.5643G>A | NP_001360.1:p.Thr1881= | |
| XM_005248262.2:c.5598G>A | XP_005248319.1:p.Thr1866= | |
| XM_011513990.1:c.5643G>A | XP_011512292.1:p.Thr1881= | |
| XR_925598.1:n.5850G>A | ||
| XM_005248262.3:c.5751G>A | XP_005248319.2:p.Thr1917= | |
| XM_017009177.1:c.5751G>A | XP_016864666.1:p.Thr1917= | |
| XM_017009178.1:c.4656G>A | XP_016864667.1:p.Thr1552= | |
| XM_017009179.2:c.4656G>A | XP_016864668.1:p.Thr1552= | |
| XM_017009180.1:c.5751G>A | XP_016864669.1:p.Thr1917= | |
| XM_017009181.1:c.5751G>A | XP_016864670.1:p.Thr1917= | |
| XM_017009182.1:c.5751G>A | XP_016864671.1:p.Thr1917= | |
| XM_017009183.1:c.5751G>A | XP_016864672.1:p.Thr1917= | |
| XM_017009184.1:c.5751G>A | XP_016864673.1:p.Thr1917= | |
| XM_017009185.1:c.840G>A | XP_016864674.1:p.Thr280= | |
| XM_017009186.1:c.393G>A | XP_016864675.1:p.Thr131= | |
| XM_017009187.1:c.5751G>A | XP_016864676.1:p.Thr1917= | |
| XM_024454388.1:c.4656G>A | XP_024310156.1:p.Thr1552= | |
| XM_024454389.1:c.4245G>A | XP_024310157.1:p.Thr1415= | |
| XR_001742034.1:n.5768G>A | ||
| XR_001742035.1:n.5768G>A | ||
| NM_001369.3:c.5643G>A MANE Select | NP_001360.1:p.Thr1881= |