gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.86097891 (NFE)
Genomes Max Group AF
0.86097891 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216689490T>C , CM000664.2:g.216689490T>C | GRCh38 |
| NC_000002.11:g.217554213T>C , CM000664.1:g.217554213T>C | GRCh37 |
| NC_000002.10:g.217262458T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233813.5:c.337+4949A>G MANE Select | ENSP00000233813.4:n.337+4949A>G | |
| ENST00000233813.4:c.337+4949A>G | ENSP00000233813.4:n.337+4949A>G | |
| ENST00000449583.1:c.337+4949A>G | ENSP00000413474.1:n.337+4949A>G | |
| ENST00000486341.1:n.229+4949A>G | ||
| NM_000599.3:c.337+4949A>G | NP_000590.1:n.337+4949A>G | |
| NM_000599.4:c.337+4949A>G MANE Select | NP_000590.1:n.337+4949A>G |