ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00065415 (MID)
Exomes Max Group AF
0.00068985 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50911815T>C , CM000676.2:g.50911815T>C | GRCh38 |
| NC_000014.8:g.51378533T>C , CM000676.1:g.51378533T>C | GRCh37 |
| NC_000014.7:g.50448283T>C | NCBI36 |
| NG_012796.1:g.37716A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.1884A>G MANE Select | ENSP00000216392.7:p.Ala628= | |
| ENST00000216392.7:c.1884A>G | ENSP00000216392.7:p.Ala628= | |
| ENST00000532107.2:n.57A>G | ||
| ENST00000532462.5:c.1884A>G | ENSP00000431657.1:p.Ala628= | |
| ENST00000544180.6:c.1782A>G | ENSP00000443787.1:p.Ala594= | |
| NM_001163940.1:c.1782A>G | NP_001157412.1:p.Ala594= | |
| NM_002863.4:c.1884A>G | NP_002854.3:p.Ala628= | |
| NM_002863.5:c.1884A>G MANE Select | NP_002854.3:p.Ala628= | |
| NM_001163940.2:c.1782A>G | NP_001157412.1:p.Ala594= |