dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17372038 (AFR)
Genomes Max Group AF
0.17372038 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.104623386C>T , CM000674.2:g.104623386C>T | GRCh38 |
| NC_000012.11:g.105017164C>T , CM000674.1:g.105017164C>T | GRCh37 |
| NC_000012.10:g.103541294C>T | NCBI36 |
| NG_029810.1:g.171473C>T | |
| NG_029810.2:g.171473C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303694.6:c.204+21395C>T MANE Select | ENSP00000305725.5:n.204+21395C>T | |
| ENST00000303694.5:c.204+21395C>T | ENSP00000305725.5:n.204+21395C>T | |
| ENST00000549016.1:c.84+21395C>T | ENSP00000449095.1:n.84+21395C>T | |
| ENST00000549260.5:c.189+21395C>T | ENSP00000450004.1:n.189+21395C>T | |
| NM_001173982.1:c.189+21395C>T | NP_001167453.1:n.189+21395C>T | |
| NM_018413.5:c.204+21395C>T | NP_060883.1:n.204+21395C>T | |
| XM_017019369.1:c.209+21395C>T | XP_016874858.1:n.209+21395C>T | |
| NM_018413.6:c.204+21395C>T MANE Select | NP_060883.1:n.204+21395C>T | |
| NM_001173982.2:c.189+21395C>T | NP_001167453.1:n.189+21395C>T |