ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00063818 (AFR)
Genomes Max Group AF
0.00060309 (AFR)
Exomes Max Group AF
0.00054347 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128357299C>G , CM000667.2:g.128357299C>G | GRCh38 |
| NC_000005.9:g.127692991C>G , CM000667.1:g.127692991C>G | GRCh37 |
| NC_000005.8:g.127720890C>G | NCBI36 |
| NG_008750.1:g.185745G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.2651G>C MANE Select | ENSP00000262464.4:p.Ser884Thr | |
| ENST00000262464.8:c.2651G>C | ENSP00000262464.4:p.Ser884Thr | |
| ENST00000508053.5:c.2651G>C | ENSP00000424571.1:p.Ser884Thr | |
| ENST00000508989.5:c.2552G>C | ENSP00000425596.1:p.Ser851Thr | |
| ENST00000619499.4:c.2648G>C | ENSP00000482132.1:p.Ser883Thr | |
| NM_001999.3:c.2651G>C | NP_001990.2:p.Ser884Thr | |
| XM_017009228.2:c.2498G>C | XP_016864717.1:p.Ser833Thr | |
| NM_001999.4:c.2651G>C MANE Select | NP_001990.2:p.Ser884Thr |