Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353527C= , CM000674.2:g.69353527C= | GRCh38 |
| NC_000012.11:g.69747307C= , CM000674.1:g.69747307C= | GRCh37 |
| NC_000012.10:g.68033574C= | NCBI36 |
| NG_008195.1:g.10174C= , LRG_768:g.10174C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*308C= MANE Select | ENSP00000261267.2:n.*308C= | |
| ENST00000261267.6:c.*308C= | ENSP00000261267.2:n.*308C= | |
| NM_000239.2:c.*308C= , LRG_768t1:c.*308C= | NP_000230.1:n.*308C= | |
| NM_000239.3:c.*308C= MANE Select | NP_000230.1:n.*308C= |