ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37769050C>T , CM000684.2:g.37769050C>T | GRCh38 |
| NC_000022.10:g.38165057C>T , CM000684.1:g.38165057C>T | GRCh37 |
| NC_000022.9:g.36495003C>T | NCBI36 |
| NG_012857.1:g.77063C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.6598C>T MANE Select | ENSP00000496394.1:p.Arg2200Ter | |
| ENST00000344404.10:c.*6081C>T | ENSP00000340312.6:n.*6081C>T | |
| ENST00000403663.6:c.1459C>T | ENSP00000386026.2:p.Arg487Ter | |
| ENST00000406386.7:c.6598C>T | ENSP00000384312.3:p.Arg2200Ter | |
| NM_001039141.2:c.6598C>T | NP_001034230.1:p.Arg2200Ter | |
| NM_007032.5:c.1459C>T | NP_008963.3:p.Arg487Ter | |
| NM_001039141.3:c.6598C>T MANE Select | NP_001034230.1:p.Arg2200Ter |