gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6829936 (AFR)
Genomes Max Group AF
0.6829936 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.140563980G>A , CM000666.2:g.140563980G>A | GRCh38 |
| NC_000004.11:g.141485134G>A , CM000666.1:g.141485134G>A | GRCh37 |
| NC_000004.10:g.141704584G>A | NCBI36 |
| NG_012139.1:g.9826C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262999.4:c.326-462C>T MANE Select | ENSP00000262999.3:n.326-462C>T | |
| ENST00000262999.3:c.326-462C>T | ENSP00000262999.3:n.326-462C>T | |
| NM_021833.4:c.326-462C>T | NP_068605.1:n.326-462C>T | |
| XM_005263206.2:c.326-465C>T | XP_005263263.1:n.326-465C>T | |
| XM_011532228.1:c.326-462C>T | XP_011530530.1:n.326-462C>T | |
| XM_005263206.3:c.326-465C>T | XP_005263263.1:n.326-465C>T | |
| XM_011532228.2:c.326-462C>T | XP_011530530.1:n.326-462C>T | |
| NM_021833.5:c.326-462C>T MANE Select | NP_068605.1:n.326-462C>T |