Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24576474C>T , CM000666.2:g.24576474C>T | GRCh38 |
| NC_000004.11:g.24578097C>T , CM000666.1:g.24578097C>T | GRCh37 |
| NC_000004.10:g.24187195C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001358.3:c.276G>A MANE Select | NP_001349.2:p.Thr92= |
| ENST00000336812.5:c.276G>A MANE Select | ENSP00000336741.4:p.Thr92= |
| NM_001358.2:c.276G>A | NP_001349.2:p.Thr92= |
| ENST00000336812.4:c.276G>A | ENSP00000336741.4:p.Thr92= |
| ENST00000511553.5:n.527G>A | |
| XR_001741152.2:n.437G>A | |
| XR_925314.1:n.486G>A |