Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16993001A>C , CM000670.2:g.16993001A>C | GRCh38 |
| NC_000008.10:g.16850510A>C , CM000670.1:g.16850510A>C | GRCh37 |
| NC_000008.9:g.16894881A>C | NCBI36 |
| NG_015978.1:g.14165T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.*71T>G MANE Select | ENSP00000180166.5:n.*71T>G | |
| ENST00000180166.5:c.*71T>G | ENSP00000180166.5:n.*71T>G | |
| ENST00000519941.1:c.411T>G | ||
| NM_019851.2:c.*71T>G | NP_062825.1:n.*71T>G | |
| NM_019851.3:c.*71T>G MANE Select | NP_062825.1:n.*71T>G |