gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16051593 (AMR)
Genomes Max Group AF
0.13081199 (AMR)
Exomes Max Group AF
0.16967575 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132675353G>A , CM000674.2:g.132675353G>A | GRCh38 |
| NC_000012.11:g.133251939G>A , CM000674.1:g.133251939G>A | GRCh37 |
| NC_000012.10:g.131762012G>A | NCBI36 |
| NG_033840.1:g.17172C>T , LRG_789:g.17172C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545015.2:n.1253+45C>T | ||
| ENST00000699982.1:c.1080+45C>T | ||
| ENST00000699983.1:c.1080+45C>T | ||
| ENST00000699984.1:c.1080+45C>T | ||
| ENST00000320574.10:c.1226+45C>T MANE Select | ENSP00000322570.5:n.1226+45C>T | |
| ENST00000672742.1:c.*728+45C>T | ENSP00000500279.1:n.*728+45C>T | |
| ENST00000320574.9:c.1226+45C>T | ENSP00000322570.5:n.1226+45C>T | |
| ENST00000535270.5:c.1145+45C>T | ENSP00000445753.1:n.1145+45C>T | |
| ENST00000535934.2:n.1101+45C>T | ||
| ENST00000537064.5:c.*273+45C>T | ENSP00000442578.1:n.*273+45C>T | |
| NM_006231.3:c.1226+45C>T , LRG_789t1:c.1226+45C>T | NP_006222.2:n.1226+45C>T | |
| XM_011534795.1:c.1226+45C>T | XP_011533097.1:n.1226+45C>T | |
| XM_011534796.1:c.1097+45C>T | XP_011533098.1:n.1097+45C>T | |
| XM_011534797.1:c.305+45C>T | XP_011533099.1:n.305+45C>T | |
| XM_011534799.1:c.1226+45C>T | XP_011533101.1:n.1226+45C>T | |
| XM_011534800.1:c.1226+45C>T | XP_011533102.1:n.1226+45C>T | |
| XM_011534801.1:c.1226+45C>T | XP_011533103.1:n.1226+45C>T | |
| XR_941395.1:n.1435+45C>T | ||
| XM_011534795.3:c.1226+45C>T | XP_011533097.1:n.1226+45C>T | |
| XM_011534797.3:c.305+45C>T | XP_011533099.1:n.305+45C>T | |
| XM_011534799.2:c.1226+45C>T | XP_011533101.1:n.1226+45C>T | |
| XR_002957338.1:n.1430+45C>T | ||
| XR_002957339.1:n.1430+45C>T | ||
| XR_941395.2:n.1430+45C>T | ||
| NM_006231.4:c.1226+45C>T MANE Select | NP_006222.2:n.1226+45C>T |