gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001454 (NFE)
Exomes Max Group AF
0.0000146 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21038086C>A , CM000664.2:g.21038086C>A | GRCh38 |
| NC_000002.11:g.21260958C>A , CM000664.1:g.21260958C>A | GRCh37 |
| NC_000002.10:g.21114463C>A | NCBI36 |
| NG_011793.1:g.10988G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.384-831G>T | ENSP00000501110.2:n.384-831G>T | |
| ENST00000673882.2:c.384-831G>T | ENSP00000501253.2:n.384-831G>T | |
| ENST00000673739.1:c.252-831G>T | ENSP00000501110.1:n.252-831G>T | |
| ENST00000673882.1:c.252-831G>T | ENSP00000501253.1:n.252-831G>T | |
| ENST00000233242.5:c.409G>T MANE Select | ENSP00000233242.1:p.Glu137Ter | |
| ENST00000399256.4:c.409G>T | ENSP00000382200.4:p.Glu137Ter | |
| ENST00000616098.4:c.409G>T | ENSP00000477990.1:p.Glu137Ter | |
| NM_000384.2:c.409G>T | NP_000375.2:p.Glu137Ter | |
| XM_011532809.1:c.409G>T | XP_011531111.1:p.Glu137Ter | |
| NM_000384.3:c.409G>T MANE Select | NP_000375.3:p.Glu137Ter |