ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000875 (SAS)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000924 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49456163C>T , CM000668.2:g.49456163C>T | GRCh38 |
| NC_000006.11:g.49423876C>T , CM000668.1:g.49423876C>T | GRCh37 |
| NC_000006.10:g.49531835C>T | NCBI36 |
| NG_007100.1:g.11977G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.828G>A MANE Select | ENSP00000274813.3:p.Glu276= | |
| ENST00000274813.3:c.828G>A | ENSP00000274813.3:p.Glu276= | |
| NM_000255.3:c.828G>A | NP_000246.2:p.Glu276= | |
| XM_005249143.2:c.828G>A | XP_005249200.1:p.Glu276= | |
| XM_005249143.3:c.828G>A | XP_005249200.1:p.Glu276= | |
| NM_000255.4:c.828G>A MANE Select | NP_000246.2:p.Glu276= |