Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.38688292T>C , CM000675.2:g.38688292T>C | GRCh38 |
| NC_000013.10:g.39262429T>C , CM000675.1:g.39262429T>C | GRCh37 |
| NC_000013.9:g.38160429T>C | NCBI36 |
| NG_008125.2:g.6257T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_207361.6:c.948T>C MANE Select | NP_997244.4:p.Thr316= |
| ENST00000280481.9:c.948T>C MANE Select | ENSP00000280481.7:p.Thr316= |
| NM_207361.5:c.948T>C | NP_997244.4:p.Thr316= |
| ENST00000280481.8:c.948T>C | ENSP00000280481.7:p.Thr316= |
| XM_011535057.1:c.948T>C | XP_011533359.1:p.Thr316= |
| XM_017020554.1:c.948T>C | XP_016876043.1:p.Thr316= |
| XR_941571.1:n.1256T>C | |
| XR_941571.2:n.1252T>C |