Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353570C>A , CM000674.2:g.69353570C>A | GRCh38 |
| NC_000012.11:g.69747350C>A , CM000674.1:g.69747350C>A | GRCh37 |
| NC_000012.10:g.68033617C>A | NCBI36 |
| NG_008195.1:g.10217C>A , LRG_768:g.10217C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*351C>A MANE Select | ENSP00000261267.2:n.*351C>A | |
| ENST00000261267.6:c.*351C>A | ENSP00000261267.2:n.*351C>A | |
| NM_000239.2:c.*351C>A , LRG_768t1:c.*351C>A | NP_000230.1:n.*351C>A | |
| NM_000239.3:c.*351C>A MANE Select | NP_000230.1:n.*351C>A |