Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70179077T>C , CM000679.2:g.70179077T>C | GRCh38 |
| NC_000017.10:g.68175218T>C , CM000679.1:g.68175218T>C | GRCh37 |
| NC_000017.9:g.65686813T>C | NCBI36 |
| NG_008798.1:g.14543T>C , LRG_328:g.14543T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000891.3:c.*2754T>C MANE Select | NP_000882.1:n.*2754T>C |
| ENST00000243457.4:c.*2754T>C MANE Select | ENSP00000243457.2:n.*2754T>C |
| NM_000891.2:c.*2754T>C , LRG_328t1:c.*2754T>C | NP_000882.1:n.*2754T>C |
| ENST00000243457.3:c.*2754T>C | ENSP00000243457.2:n.*2754T>C |