gnomAD v2:
gnomAD v4:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.74114804C>T , CM000672.2:g.74114804C>T | GRCh38 |
| NC_000010.10:g.75874562C>T , CM000672.1:g.75874562C>T | GRCh37 |
| NC_000010.9:g.75544568C>T | NCBI36 |
| NG_008868.1:g.121691C>T , LRG_383:g.121691C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000211998.10:c.3163C>T MANE Select | ENSP00000211998.5:p.Arg1055Ter | |
| ENST00000211998.8:c.3163C>T | ENSP00000211998.4:p.Arg1055Ter | |
| ENST00000372755.7:c.2959C>T | ENSP00000361841.3:p.Arg987Ter | |
| ENST00000436396.1:c.2179C>T | ENSP00000415489.1:p.Arg727Ter | |
| ENST00000623461.3:n.5762C>T | ||
| ENST00000624354.3:c.*2918C>T | ENSP00000485551.1:n.*2918C>T | |
| NM_003373.3:c.2959C>T | NP_003364.1:p.Arg987Ter | |
| NM_014000.2:c.3163C>T , LRG_383t1:c.3163C>T | NP_054706.1:p.Arg1055Ter | |
| XM_005270142.1:c.3166C>T | XP_005270199.1:p.Arg1056Ter | |
| XM_005270143.1:c.2962C>T | XP_005270200.1:p.Arg988Ter | |
| NM_003373.4:c.2959C>T | NP_003364.1:p.Arg987Ter | |
| NM_014000.3:c.3163C>T MANE Select | NP_054706.1:p.Arg1055Ter |