Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16992933A>T , CM000670.2:g.16992933A>T | GRCh38 |
| NC_000008.10:g.16850442A>T , CM000670.1:g.16850442A>T | GRCh37 |
| NC_000008.9:g.16894813A>T | NCBI36 |
| NG_015978.1:g.14233T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.*139T>A MANE Select | ENSP00000180166.5:n.*139T>A | |
| ENST00000180166.5:c.*139T>A | ENSP00000180166.5:n.*139T>A | |
| NM_019851.2:c.*139T>A | NP_062825.1:n.*139T>A | |
| NM_019851.3:c.*139T>A MANE Select | NP_062825.1:n.*139T>A |