Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176119427C>T , CM000664.2:g.176119427C>T | GRCh38 |
| NC_000002.11:g.176984155C>T , CM000664.1:g.176984155C>T | GRCh37 |
| NC_000002.10:g.176692401C>T | NCBI36 |
| NG_008133.2:g.12664C>T , LRG_246:g.12664C>T | |
| NG_009225.1:g.1743C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249501.5:c.*196C>T MANE Select | ENSP00000249501.4:n.*196C>T | |
| ENST00000249501.4:c.*196C>T | ENSP00000249501.4:n.*196C>T | |
| NM_002148.3:c.*196C>T , LRG_246t1:c.*196C>T | NP_002139.2:n.*196C>T | |
| NM_002148.4:c.*196C>T MANE Select | NP_002139.2:n.*196C>T |