gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.0000031 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219423817C>T , CM000664.2:g.219423817C>T | GRCh38 |
| NC_000002.11:g.220288539C>T , CM000664.1:g.220288539C>T | GRCh37 |
| NC_000002.10:g.219996783C>T | NCBI36 |
| NG_008043.1:g.10441C>T , LRG_380:g.10441C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.759C>T | ||
| ENST00000683013.1:n.673C>T | ||
| ENST00000373960.4:c.1285C>T MANE Select | ENSP00000363071.3:p.Arg429Ter | |
| ENST00000373960.3:c.1285C>T | ENSP00000363071.3:p.Arg429Ter | |
| ENST00000477226.5:n.757C>T | ||
| ENST00000492726.1:n.680C>T | ||
| NM_001927.3:c.1285C>T , LRG_380t1:c.1285C>T | NP_001918.3:p.Arg429Ter | |
| NM_001927.4:c.1285C>T MANE Select | NP_001918.3:p.Arg429Ter | |
| NM_001382708.1:c.1282C>T | NP_001369637.1:p.Arg428Ter | |
| NM_001382709.1:c.853C>T | NP_001369638.1:p.Arg285Ter | |
| NM_001382710.1:c.1216C>T | NP_001369639.1:p.Arg406Ter | |
| NM_001382711.1:c.1264C>T | NP_001369640.1:p.Arg422Ter | |
| NM_001382712.1:c.1285C>T | NP_001369641.1:p.Arg429Ter | |
| NM_001382713.1:c.1015C>T | NP_001369642.1:p.Arg339Ter |