gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000836 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49457751G>A , CM000668.2:g.49457751G>A | GRCh38 |
| NC_000006.11:g.49425464G>A , CM000668.1:g.49425464G>A | GRCh37 |
| NC_000006.10:g.49533423G>A | NCBI36 |
| NG_007100.1:g.10389C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.693C>T MANE Select | ENSP00000274813.3:p.Tyr231= | |
| ENST00000274813.3:c.693C>T | ENSP00000274813.3:p.Tyr231= | |
| NM_000255.3:c.693C>T | NP_000246.2:p.Tyr231= | |
| XM_005249143.2:c.693C>T | XP_005249200.1:p.Tyr231= | |
| XM_005249143.3:c.693C>T | XP_005249200.1:p.Tyr231= | |
| NM_000255.4:c.693C>T MANE Select | NP_000246.2:p.Tyr231= |