gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00149028 (AFR)
Genomes Max Group AF
0.00145471 (AFR)
Exomes Max Group AF
0.00132191 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92003803G>A , CM000676.2:g.92003803G>A | GRCh38 |
| NC_000014.8:g.92470147G>A , CM000676.1:g.92470147G>A | GRCh37 |
| NC_000014.7:g.91539900G>A | NCBI36 |
| NG_016970.1:g.41257C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.4173C>T MANE Select | ENSP00000267622.4:p.Thr1391= | |
| ENST00000554357.5:c.3319C>T | ||
| NM_004239.3:c.4173C>T | NP_004230.2:p.Thr1391= | |
| XM_005268214.2:c.2847C>T | XP_005268271.1:p.Thr949= | |
| XM_005268215.2:c.1528-3695C>T | XP_005268272.1:n.1528-3695C>T | |
| XM_006720321.2:c.4170C>T | XP_006720384.1:p.Thr1390= | |
| XM_011537361.1:c.4173C>T | XP_011535663.1:p.Thr1391= | |
| XR_943560.1:n.4628C>T | ||
| NM_001321851.1:c.4170C>T | NP_001308780.1:p.Thr1390= | |
| NM_004239.4:c.4173C>T MANE Select | NP_004230.2:p.Thr1391= | |
| XM_017021787.2:c.3468C>T | XP_016877276.1:p.Thr1156= | |
| XM_017021788.2:c.2847C>T | XP_016877277.1:p.Thr949= | |
| XR_001750598.2:n.4622C>T | ||
| XR_943560.2:n.4622C>T |