ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2571362C>A , CM000673.2:g.2571362C>A | GRCh38 |
| NC_000011.9:g.2592592C>A , CM000673.1:g.2592592C>A | GRCh37 |
| NC_000011.8:g.2549168C>A | NCBI36 |
| NG_008935.1:g.131372C>A , LRG_287:g.131372C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.381C>A | ENSP00000434560.2:p.Cys127Ter | |
| ENST00000646564.2:c.478-12073C>A | ENSP00000495806.2:n.478-12073C>A | |
| ENST00000155840.12:c.642C>A MANE Select | ENSP00000155840.2:p.Cys214Ter | |
| ENST00000335475.6:c.261C>A | ENSP00000334497.5:p.Cys87Ter | |
| ENST00000646564.1:c.124-12073C>A | ENSP00000495806.1:n.124-12073C>A | |
| ENST00000155840.9:c.642C>A | ENSP00000155840.2:p.Cys214Ter | |
| ENST00000335475.5:c.261C>A | ENSP00000334497.5:p.Cys87Ter | |
| ENST00000496887.6:c.381C>A | ENSP00000434560.1:p.Cys127Ter | |
| NM_000218.2:c.642C>A , LRG_287t1:c.642C>A | NP_000209.2:p.Cys214Ter | |
| NM_181798.1:c.261C>A , LRG_287t2:c.261C>A | NP_861463.1:p.Cys87Ter | |
| NM_000218.3:c.642C>A MANE Select | NP_000209.2:p.Cys214Ter |