ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89191358C>T , CM000673.2:g.89191358C>T | GRCh38 |
| NC_000011.9:g.88924526C>T , CM000673.1:g.88924526C>T | GRCh37 |
| NC_000011.8:g.88564174C>T | NCBI36 |
| NG_008748.1:g.18487C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.976C>T MANE Select | ENSP00000263321.4:p.Gln326Ter | |
| ENST00000263321.5:c.976C>T | ENSP00000263321.4:p.Gln326Ter | |
| ENST00000526139.1:n.1037C>T | ||
| NM_000372.4:c.976C>T | NP_000363.1:p.Gln326Ter | |
| XM_011542970.1:c.976C>T | XP_011541272.1:p.Gln326Ter | |
| XM_011542970.2:c.976C>T | XP_011541272.1:p.Gln326Ter | |
| XR_001748321.1:n.2718-77825G>A | ||
| XR_001748322.1:n.2733-77825G>A | ||
| NM_000372.5:c.976C>T MANE Select | NP_000363.1:p.Gln326Ter |