Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120978572C>T , CM000674.2:g.120978572C>T | GRCh38 |
| NC_000012.11:g.121416375C>T , CM000674.1:g.121416375C>T | GRCh37 |
| NC_000012.10:g.119900758C>T | NCBI36 |
| NG_011731.2:g.4827C>T , LRG_522:g.4827C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000545.8:c.-197C>T MANE Select | NP_000536.6:n.-197C>T |
| ENST00000257555.11:c.-197C>T MANE Select | ENSP00000257555.5:n.-197C>T |
| NM_000545.6:c.-197C>T | NP_000536.5:n.-197C>T |
| NM_001306179.1:c.-197C>T | NP_001293108.1:n.-197C>T |
| NM_001306179.2:c.-197C>T | NP_001293108.2:n.-197C>T |
| ENST00000257555.10:c.-197C>T | ENSP00000257555.4:n.-197C>T |
| ENST00000400024.6:c.-197C>T | ENSP00000476181.1:n.-197C>T |
| XM_005253931.2:c.-197C>T | XP_005253988.1:n.-197C>T |
| XM_024449168.1:c.-197C>T | XP_024304936.1:n.-197C>T |