Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.64729025A= , CM000674.2:g.64729025A= | GRCh38 |
| NC_000012.11:g.65122805A= , CM000674.1:g.65122805A= | GRCh37 |
| NC_000012.10:g.63409072A= | NCBI36 |
| NG_008955.1:g.35422T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258145.8:c.1131T= MANE Select | ENSP00000258145.3:p.Thr377= | |
| ENST00000258145.7:c.1131T= | ENSP00000258145.3:p.Thr377= | |
| ENST00000418919.6:c.963T= | ENSP00000413130.2:p.Thr321= | |
| ENST00000537823.1:n.130T= | ||
| ENST00000540196.5:c.557-5912T= | ||
| ENST00000540883.1:n.194T= | ||
| ENST00000541781.5:n.1186T= | ||
| ENST00000542058.5:c.1071T= | ENSP00000444819.1:p.Thr357= | |
| ENST00000543646.5:c.1227T= | ENSP00000438497.1:p.Thr409= | |
| NM_002076.3:c.1131T= | NP_002067.1:p.Thr377= | |
| NM_002076.4:c.1131T= MANE Select | NP_002067.1:p.Thr377= |