Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320495A= , CM000667.2:g.159320495A= | GRCh38 |
| NC_000005.9:g.158747503A= , CM000667.1:g.158747503A= | GRCh37 |
| NC_000005.8:g.158680081A= | NCBI36 |
| NG_009618.1:g.14979T= , LRG_71:g.14979T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-123T= | ENSP00000512849.1:n.-123T= | |
| ENST00000696751.1:c.*3T= | ENSP00000512850.1:n.*3T= | |
| ENST00000231228.3:c.508T= MANE Select | ENSP00000231228.2:p.Cys170= | |
| ENST00000231228.2:c.508T= | ENSP00000231228.2:p.Cys170= | |
| NM_002187.2:c.508T= , LRG_71t1:c.508T= | NP_002178.2:p.Cys170= | |
| XR_001742945.1:n.46A= | ||
| NM_002187.3:c.508T= MANE Select | NP_002178.2:p.Cys170= |