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