gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15668986 (MID)
Genomes Max Group AF
0.13376685 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.81186695A>G , CM000667.2:g.81186695A>G | GRCh38 |
| NC_000005.9:g.80482514A>G , CM000667.1:g.80482514A>G | GRCh37 |
| NC_000005.8:g.80518270A>G | NCBI36 |
| NG_030334.1:g.231007A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265080.9:c.2793+6414A>G MANE Select | ENSP00000265080.4:n.2793+6414A>G | |
| ENST00000265080.8:c.2793+6414A>G | ENSP00000265080.4:n.2793+6414A>G | |
| ENST00000503795.1:c.2793+6414A>G | ENSP00000421771.1:n.2793+6414A>G | |
| NM_006909.2:c.2793+6414A>G | NP_008840.1:n.2793+6414A>G | |
| XM_017009682.2:c.2508+6414A>G | XP_016865171.1:n.2508+6414A>G | |
| XR_002956166.1:n.2909+6414A>G | ||
| NM_006909.3:c.2793+6414A>G MANE Select | NP_008840.1:n.2793+6414A>G |