gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00177492 (AFR)
Genomes Max Group AF
0.0019348 (AFR)
Exomes Max Group AF
0.0013488 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123744888C>T , CM000674.2:g.123744888C>T | GRCh38 |
| NC_000012.11:g.124229435C>T , CM000674.1:g.124229435C>T | GRCh37 |
| NC_000012.10:g.122795388C>T | NCBI36 |
| NG_012743.1:g.37571C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.1521C>T MANE Select | ENSP00000332247.2:p.Ser507= | |
| ENST00000540368.6:n.1552C>T | ||
| ENST00000674794.1:c.1609C>T | ||
| ENST00000675260.1:n.796C>T | ||
| ENST00000675344.1:c.*542C>T | ENSP00000501953.1:n.*542C>T | |
| ENST00000330342.7:c.1521C>T | ENSP00000332247.2:p.Ser507= | |
| ENST00000536426.1:n.538C>T | ||
| ENST00000545059.5:n.4157C>T | ||
| NM_012463.3:c.1521C>T | NP_036595.2:p.Ser507= | |
| XM_005253563.1:c.1521C>T | XP_005253620.1:p.Ser507= | |
| XM_006719317.2:c.1008C>T | XP_006719380.1:p.Ser336= | |
| XM_006719318.2:c.699C>T | XP_006719381.1:p.Ser233= | |
| XR_429088.1:n.1684C>T | ||
| XM_024448910.1:c.1521C>T | XP_024304678.1:p.Ser507= | |
| XM_024448911.1:c.1008C>T | XP_024304679.1:p.Ser336= | |
| XM_024448912.1:c.699C>T | XP_024304680.1:p.Ser233= | |
| NM_012463.4:c.1521C>T MANE Select | NP_036595.2:p.Ser507= |