gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001063 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00000931 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132675752G>A , CM000674.2:g.132675752G>A | GRCh38 |
| NC_000012.11:g.133252338G>A , CM000674.1:g.133252338G>A | GRCh37 |
| NC_000012.10:g.131762411G>A | NCBI36 |
| NG_033840.1:g.16773C>T , LRG_789:g.16773C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545015.2:n.1116C>T | ||
| ENST00000699982.1:c.943C>T | ||
| ENST00000699983.1:c.943C>T | ||
| ENST00000699984.1:c.943C>T | ||
| ENST00000320574.10:c.1089C>T MANE Select | ENSP00000322570.5:p.Asn363= | |
| ENST00000672742.1:c.*591C>T | ENSP00000500279.1:n.*591C>T | |
| ENST00000320574.9:c.1089C>T | ENSP00000322570.5:p.Asn363= | |
| ENST00000535270.5:c.1008C>T | ENSP00000445753.1:p.Asn336= | |
| ENST00000535934.2:n.747C>T | ||
| ENST00000537064.5:c.*136C>T | ENSP00000442578.1:n.*136C>T | |
| NM_006231.3:c.1089C>T , LRG_789t1:c.1089C>T | NP_006222.2:p.Asn363= | |
| XM_011534795.1:c.1089C>T | XP_011533097.1:p.Asn363= | |
| XM_011534796.1:c.960C>T | XP_011533098.1:p.Asn320= | |
| XM_011534797.1:c.168C>T | XP_011533099.1:p.Asn56= | |
| XM_011534799.1:c.1089C>T | XP_011533101.1:p.Asn363= | |
| XM_011534800.1:c.1089C>T | XP_011533102.1:p.Asn363= | |
| XM_011534801.1:c.1089C>T | XP_011533103.1:p.Asn363= | |
| XR_941395.1:n.1298C>T | ||
| XM_011534795.3:c.1089C>T | XP_011533097.1:p.Asn363= | |
| XM_011534797.3:c.168C>T | XP_011533099.1:p.Asn56= | |
| XM_011534799.2:c.1089C>T | XP_011533101.1:p.Asn363= | |
| XR_002957338.1:n.1293C>T | ||
| XR_002957339.1:n.1293C>T | ||
| XR_941395.2:n.1293C>T | ||
| NM_006231.4:c.1089C>T MANE Select | NP_006222.2:p.Asn363= |