Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176119428C>A , CM000664.2:g.176119428C>A | GRCh38 |
| NC_000002.11:g.176984156C>A , CM000664.1:g.176984156C>A | GRCh37 |
| NC_000002.10:g.176692402C>A | NCBI36 |
| NG_008133.2:g.12665C>A , LRG_246:g.12665C>A | |
| NG_009225.1:g.1744C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249501.5:c.*197C>A MANE Select | ENSP00000249501.4:n.*197C>A | |
| ENST00000249501.4:c.*197C>A | ENSP00000249501.4:n.*197C>A | |
| NM_002148.3:c.*197C>A , LRG_246t1:c.*197C>A | NP_002139.2:n.*197C>A | |
| NM_002148.4:c.*197C>A MANE Select | NP_002139.2:n.*197C>A |