Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154583796G= , CM000666.2:g.154583796G= | GRCh38 |
| NC_000004.11:g.155504948G= , CM000666.1:g.155504948G= | GRCh37 |
| NC_000004.10:g.155724398G= | NCBI36 |
| NG_008832.1:g.11950C= , LRG_557:g.11950C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000508.3:c.*328C= , LRG_557t1:c.*328C= | NP_000499.1:n.*328C= |
| NM_000508.4:c.*328C= | NP_000499.1:n.*328C= |
| NM_000508.5:c.*328C= | NP_000499.1:n.*328C= |
| ENST00000302053.7:c.*328C= | ENSP00000306361.3:n.*328C= |
| ENST00000651975.1:c.*328C= | ENSP00000498441.1:n.*328C= |
| ENST00000651975.2:c.*328C= | ENSP00000498441.1:n.*328C= |