Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750938T= , CM000684.2:g.27750938T= | GRCh38 |
| NC_000022.10:g.28146926T= , CM000684.1:g.28146926T= | GRCh37 |
| NC_000022.9:g.26476926T= | NCBI36 |
| NG_023258.1:g.55561A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703102.1:n.465A= | ||
| ENST00000302326.5:c.3940A= MANE Select | ENSP00000304956.4:p.Thr1314= | |
| ENST00000302326.4:c.3940A= | ENSP00000304956.4:p.Thr1314= | |
| ENST00000424656.1:c.293A= | ||
| ENST00000497225.1:n.296A= | ||
| NM_002430.2:c.3940A= | NP_002421.3:p.Thr1314= | |
| NM_002430.3:c.3940A= MANE Select | NP_002421.3:p.Thr1314= |