gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41663247 (NFE)
Genomes Max Group AF
0.41663247 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.21855846A>C , CM000684.2:g.21855846A>C | GRCh38 |
| NC_000022.10:g.22210135A>C , CM000684.1:g.22210135A>C | GRCh37 |
| NC_000022.9:g.20540135A>C | NCBI36 |
| NG_023054.2:g.16835T>G , LRG_786:g.16835T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215832.11:c.119+11476T>G MANE Select | ENSP00000215832.7:n.119+11476T>G | |
| ENST00000215832.10:c.119+11476T>G | ENSP00000215832.6:n.119+11476T>G | |
| ENST00000398822.7:c.119+11476T>G | ENSP00000381803.3:n.119+11476T>G | |
| ENST00000544786.1:c.119+11476T>G | ENSP00000440842.1:n.119+11476T>G | |
| NM_002745.4:c.119+11476T>G , LRG_786t1:c.119+11476T>G | NP_002736.3:n.119+11476T>G | |
| NM_138957.3:c.119+11476T>G , LRG_786t2:c.119+11476T>G | NP_620407.1:n.119+11476T>G | |
| NM_002745.5:c.119+11476T>G MANE Select | NP_002736.3:n.119+11476T>G |