gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63887162 (NFE)
Genomes Max Group AF
0.63887162 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.120598198G>A , CM000670.2:g.120598198G>A | GRCh38 |
| NC_000008.10:g.121610438G>A , CM000670.1:g.121610438G>A | GRCh37 |
| NC_000008.9:g.121679619G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517992.2:c.997-22973C>T MANE Select | ENSP00000431124.1:n.997-22973C>T | |
| ENST00000648490.1:c.997-22973C>T | ENSP00000497707.1:n.997-22973C>T | |
| ENST00000395601.7:c.997-22973C>T | ENSP00000378965.3:n.997-22973C>T | |
| ENST00000517992.1:c.997-22973C>T | ENSP00000431124.1:n.997-22973C>T | |
| ENST00000519177.5:n.717-22973C>T | ||
| NM_021021.3:c.997-22973C>T | NP_066301.1:n.997-22973C>T | |
| XM_011517239.1:c.997-22973C>T | XP_011515541.1:n.997-22973C>T | |
| XM_011517239.2:c.997-22973C>T | XP_011515541.1:n.997-22973C>T | |
| NM_021021.4:c.997-22973C>T MANE Select | NP_066301.1:n.997-22973C>T |