gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00899529 (AMR)
Genomes Max Group AF
0.00336195 (AMR)
Exomes Max Group AF
0.01068589 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14192202C>T , CM000679.2:g.14192202C>T | GRCh38 |
| NC_000017.10:g.14095519C>T , CM000679.1:g.14095519C>T | GRCh37 |
| NC_000017.9:g.14036244C>T | NCBI36 |
| NG_008034.1:g.127801C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.909C>T MANE Select | ENSP00000261643.3:p.Ala303= | |
| ENST00000664217.1:c.909C>T | ENSP00000499396.1:p.Ala303= | |
| ENST00000670279.1:c.909C>T | ENSP00000499450.1:p.Ala303= | |
| ENST00000261643.7:c.909C>T | ENSP00000261643.3:p.Ala303= | |
| ENST00000580561.1:c.*398C>T | ENSP00000462190.1:n.*398C>T | |
| ENST00000581931.5:c.*277C>T | ENSP00000462512.1:n.*277C>T | |
| NM_001303.3:c.909C>T | NP_001294.2:p.Ala303= | |
| XM_011523657.1:c.696-14608C>T | XP_011521959.1:n.696-14608C>T | |
| XM_011523658.1:c.333C>T | XP_011521960.1:p.Ala111= | |
| XR_933974.1:n.1012C>T | ||
| NM_001303.4:c.909C>T MANE Select | NP_001294.2:p.Ala303= |