Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70176358A>C , CM000679.2:g.70176358A>C | GRCh38 |
| NC_000017.10:g.68172499A>C , CM000679.1:g.68172499A>C | GRCh37 |
| NC_000017.9:g.65684094A>C | NCBI36 |
| NG_008798.1:g.11824A>C , LRG_328:g.11824A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000891.3:c.*35A>C MANE Select | NP_000882.1:n.*35A>C |
| ENST00000243457.4:c.*35A>C MANE Select | ENSP00000243457.2:n.*35A>C |
| NM_000891.2:c.*35A>C , LRG_328t1:c.*35A>C | NP_000882.1:n.*35A>C |
| ENST00000243457.3:c.*35A>C | ENSP00000243457.2:n.*35A>C |
| XM_011524779.1:c.*35A>C | XP_011523081.1:n.*35A>C |