gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51920845A>C , CM000674.2:g.51920845A>C | GRCh38 |
| NC_000012.11:g.52314629A>C , CM000674.1:g.52314629A>C | GRCh37 |
| NC_000012.10:g.50600896A>C | NCBI36 |
| NG_009549.1:g.18428A>C , LRG_543:g.18428A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.1194A>C | ENSP00000446724.2:p.Thr398= | |
| ENST00000551576.6:c.1464A>C | ENSP00000455848.2:p.Thr488= | |
| ENST00000388922.9:c.1464A>C MANE Select | ENSP00000373574.4:p.Thr488= | |
| ENST00000388922.8:c.1464A>C | ENSP00000373574.4:p.Thr488= | |
| ENST00000419526.6:c.942A>C | ENSP00000392492.2:p.Thr314= | |
| ENST00000550683.5:c.1506A>C | ENSP00000447884.1:p.Thr502= | |
| NM_000020.2:c.1464A>C , LRG_543t1:c.1464A>C | NP_000011.2:p.Thr488= | |
| NM_001077401.1:c.1464A>C | NP_001070869.1:p.Thr488= | |
| XM_005269235.2:c.1464A>C | XP_005269292.1:p.Thr488= | |
| XM_011539008.1:c.1194A>C | XP_011537310.1:p.Thr398= | |
| XM_024449279.1:c.675A>C | XP_024305047.1:p.Thr225= | |
| NM_000020.3:c.1464A>C MANE Select | NP_000011.2:p.Thr488= | |
| NM_001077401.2:c.1464A>C | NP_001070869.1:p.Thr488= |