gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17345897 (AFR)
Genomes Max Group AF
0.17345897 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130872696A>G , CM000671.2:g.130872696A>G | GRCh38 |
| NC_000009.11:g.133748083A>G , CM000671.1:g.133748083A>G | GRCh37 |
| NC_000009.10:g.132737904A>G | NCBI36 |
| NG_012034.1:g.163816A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372348.9:c.965-164A>G | ENSP00000361423.2:n.965-164A>G | |
| ENST00000318560.6:c.908-164A>G MANE Select | ENSP00000323315.5:n.908-164A>G | |
| ENST00000372348.7:c.965-164A>G | ENSP00000361423.2:n.965-164A>G | |
| ENST00000318560.5:c.908-164A>G | ENSP00000323315.5:n.908-164A>G | |
| ENST00000372348.6:c.965-164A>G | ENSP00000361423.2:n.965-164A>G | |
| NM_005157.5:c.908-164A>G | NP_005148.2:n.908-164A>G | |
| NM_007313.2:c.965-164A>G | NP_009297.2:n.965-164A>G | |
| NM_005157.6:c.908-164A>G MANE Select | NP_005148.2:n.908-164A>G | |
| NM_007313.3:c.965-164A>G | NP_009297.2:n.965-164A>G |