Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70178585C>T , CM000679.2:g.70178585C>T | GRCh38 |
| NC_000017.10:g.68174726C>T , CM000679.1:g.68174726C>T | GRCh37 |
| NC_000017.9:g.65686321C>T | NCBI36 |
| NG_008798.1:g.14051C>T , LRG_328:g.14051C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000891.3:c.*2262C>T MANE Select | NP_000882.1:n.*2262C>T |
| ENST00000243457.4:c.*2262C>T MANE Select | ENSP00000243457.2:n.*2262C>T |
| NM_000891.2:c.*2262C>T , LRG_328t1:c.*2262C>T | NP_000882.1:n.*2262C>T |
| ENST00000243457.3:c.*2262C>T | ENSP00000243457.2:n.*2262C>T |