ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0018228 (SAS)
Genomes Max Group AF
0.00054165 (SAS)
Exomes Max Group AF
0.00185888 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128277971G>A , CM000667.2:g.128277971G>A | GRCh38 |
| NC_000005.9:g.127613663G>A , CM000667.1:g.127613663G>A | GRCh37 |
| NC_000005.8:g.127641562G>A | NCBI36 |
| NG_008750.1:g.265073C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.4164C>T | ||
| ENST00000262464.9:c.7380C>T MANE Select | ENSP00000262464.4:p.Cys2460= | |
| ENST00000262464.8:c.7380C>T | ENSP00000262464.4:p.Cys2460= | |
| ENST00000508053.5:c.7380C>T | ENSP00000424571.1:p.Cys2460= | |
| ENST00000619499.4:c.7377C>T | ENSP00000482132.1:p.Cys2459= | |
| NM_001999.3:c.7380C>T | NP_001990.2:p.Cys2460= | |
| XM_017009228.2:c.7227C>T | XP_016864717.1:p.Cys2409= | |
| NM_001999.4:c.7380C>T MANE Select | NP_001990.2:p.Cys2460= |