gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49834408 (NFE)
Genomes Max Group AF
0.49834408 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.75135918A>C , CM000664.2:g.75135918A>C | GRCh38 |
| NC_000002.11:g.75363044A>C , CM000664.1:g.75363044A>C | GRCh37 |
| NC_000002.10:g.75216552A>C | NCBI36 |
| NG_029522.1:g.68602T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305249.10:c.390-15150T>G MANE Select | ENSP00000303522.4:n.390-15150T>G | |
| ENST00000305249.9:c.390-15150T>G | ENSP00000303522.4:n.390-15150T>G | |
| ENST00000409848.3:c.390-15150T>G | ENSP00000386448.3:n.390-15150T>G | |
| NM_001058.3:c.390-15150T>G | NP_001049.1:n.390-15150T>G | |
| NM_015727.2:c.390-15150T>G | NP_056542.1:n.390-15150T>G | |
| NM_001058.4:c.390-15150T>G MANE Select | NP_001049.1:n.390-15150T>G | |
| NM_015727.3:c.390-15150T>G | NP_056542.1:n.390-15150T>G |