Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63065904C>A , CM000670.2:g.63065904C>A | GRCh38 |
| NC_000008.10:g.63978463C>A , CM000670.1:g.63978463C>A | GRCh37 |
| NC_000008.9:g.64141017C>A | NCBI36 |
| NG_016123.1:g.25150G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260116.5:c.552G>T MANE Select | ENSP00000260116.4:p.Thr184= | |
| ENST00000260116.4:c.552G>T | ENSP00000260116.4:p.Thr184= | |
| ENST00000521138.1:n.233-17301G>T | ||
| NM_000370.3:c.552G>T MANE Select | NP_000361.1:p.Thr184= | |
| XM_006716468.2:c.205-1588G>T | XP_006716531.1:n.205-1588G>T | |
| XM_006716468.4:c.205-1588G>T | XP_006716531.1:n.205-1588G>T |