gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62550411 (NFE)
Genomes Max Group AF
0.62550411 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17318249T>G , CM000669.2:g.17318249T>G | GRCh38 |
| NC_000007.13:g.17357873T>G , CM000669.1:g.17357873T>G | GRCh37 |
| NC_000007.12:g.17324398T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242057.9:c.254-4252T>G MANE Select | ENSP00000242057.4:n.254-4252T>G | |
| ENST00000637807.1:c.224-4252T>G | ENSP00000490530.1:n.224-4252T>G | |
| ENST00000642825.1:c.209-4252T>G | ENSP00000495987.1:n.209-4252T>G | |
| ENST00000242057.8:c.254-4252T>G | ENSP00000242057.4:n.254-4252T>G | |
| ENST00000463496.1:c.254-4252T>G | ENSP00000436466.1:n.254-4252T>G | |
| NM_001621.4:c.254-4252T>G | NP_001612.1:n.254-4252T>G | |
| NM_001621.5:c.254-4252T>G MANE Select | NP_001612.1:n.254-4252T>G |