Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37226751G>A , CM000684.2:g.37226751G>A | GRCh38 |
| NC_000022.10:g.37622791G>A , CM000684.1:g.37622791G>A | GRCh37 |
| NC_000022.9:g.35952737G>A | NCBI36 |
| NG_007288.1:g.22515C>T , LRG_97:g.22515C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699915.1:n.559C>T | ||
| ENST00000249071.11:c.501C>T MANE Select | ENSP00000249071.6:p.Thr167= | |
| ENST00000249071.10:c.501C>T | ENSP00000249071.6:p.Thr167= | |
| ENST00000405484.5:c.480C>T | ENSP00000385590.1:p.Thr160= | |
| ENST00000406508.5:c.369C>T | ENSP00000385270.1:p.Thr123= | |
| ENST00000481215.1:n.326C>T | ||
| NM_002872.4:c.501C>T | NP_002863.1:p.Thr167= | |
| NM_002872.5:c.501C>T MANE Select | NP_002863.1:p.Thr167= |