ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00183277 (SAS)
Genomes Max Group AF
0.00082419 (SAS)
Exomes Max Group AF
0.00184877 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197101879T>C , CM000663.2:g.197101879T>C | GRCh38 |
| NC_000001.10:g.197071009T>C , CM000663.1:g.197071009T>C | GRCh37 |
| NC_000001.9:g.195337632T>C | NCBI36 |
| NG_015867.1:g.49816A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2108-5715A>G | ||
| ENST00000367409.9:c.7372A>G MANE Select | ENSP00000356379.4:p.Arg2458Gly | |
| ENST00000680265.1:c.7372A>G | ENSP00000505384.1:p.Arg2458Gly | |
| ENST00000680710.1:c.7372A>G | ENSP00000506676.1:p.Arg2458Gly | |
| ENST00000294732.11:c.4066-5715A>G | ENSP00000294732.7:n.4066-5715A>G | |
| ENST00000367408.5:c.1816-5715A>G | ENSP00000356378.1:n.1816-5715A>G | |
| ENST00000367409.8:c.7372A>G | ENSP00000356379.4:p.Arg2458Gly | |
| ENST00000612785.1:c.1330A>G | ENSP00000479244.1:p.Arg444Gly | |
| NM_001206846.1:c.4066-5715A>G | NP_001193775.1:n.4066-5715A>G | |
| NM_018136.4:c.7372A>G | NP_060606.3:p.Arg2458Gly | |
| NM_018136.5:c.7372A>G MANE Select | NP_060606.3:p.Arg2458Gly | |
| NM_001206846.2:c.4066-5715A>G | NP_001193775.1:n.4066-5715A>G |