Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70179216C>T , CM000679.2:g.70179216C>T | GRCh38 |
| NC_000017.10:g.68175357C>T , CM000679.1:g.68175357C>T | GRCh37 |
| NC_000017.9:g.65686952C>T | NCBI36 |
| NG_008798.1:g.14682C>T , LRG_328:g.14682C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000891.3:c.*2893C>T MANE Select | NP_000882.1:n.*2893C>T |
| ENST00000243457.4:c.*2893C>T MANE Select | ENSP00000243457.2:n.*2893C>T |
| NM_000891.2:c.*2893C>T , LRG_328t1:c.*2893C>T | NP_000882.1:n.*2893C>T |
| ENST00000243457.3:c.*2893C>T | ENSP00000243457.2:n.*2893C>T |