gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92680893 (EAS)
Genomes Max Group AF
0.92680893 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.133456164A>G , CM000669.2:g.133456164A>G | GRCh38 |
| NC_000007.13:g.133140918A>G , CM000669.1:g.133140918A>G | GRCh37 |
| NC_000007.12:g.132791458A>G | NCBI36 |
| NG_047176.1:g.208098A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253861.5:c.1183-19164A>G MANE Select | ENSP00000253861.4:n.1183-19164A>G | |
| ENST00000253861.4:c.1183-19164A>G | ENSP00000253861.4:n.1183-19164A>G | |
| ENST00000393161.6:c.1183-19164A>G | ENSP00000376868.2:n.1183-19164A>G | |
| ENST00000462055.5:n.1190-19164A>G | ||
| ENST00000479839.6:n.70+8795A>G | ||
| ENST00000486013.5:n.1212-19164A>G | ||
| ENST00000486409.6:n.277-19164A>G | ||
| NM_001037126.1:c.1183-19164A>G | NP_001032203.1:n.1183-19164A>G | |
| NM_021807.3:c.1183-19164A>G | NP_068579.3:n.1183-19164A>G | |
| XM_005250523.3:c.1183-19164A>G | XP_005250580.1:n.1183-19164A>G | |
| XM_005250523.5:c.1183-19164A>G | XP_005250580.1:n.1183-19164A>G | |
| XR_001744845.2:n.1210-19164A>G | ||
| NM_021807.4:c.1183-19164A>G MANE Select | NP_068579.3:n.1183-19164A>G | |
| NM_001037126.2:c.1183-19164A>G | NP_001032203.1:n.1183-19164A>G |