Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750936T>C , CM000684.2:g.27750936T>C | GRCh38 |
| NC_000022.10:g.28146924T>C , CM000684.1:g.28146924T>C | GRCh37 |
| NC_000022.9:g.26476924T>C | NCBI36 |
| NG_023258.1:g.55563A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703102.1:n.467A>G | ||
| ENST00000302326.5:c.3942A>G MANE Select | ENSP00000304956.4:p.Thr1314= | |
| ENST00000302326.4:c.3942A>G | ENSP00000304956.4:p.Thr1314= | |
| ENST00000424656.1:c.295A>G | ||
| ENST00000497225.1:n.298A>G | ||
| NM_002430.2:c.3942A>G | NP_002421.3:p.Thr1314= | |
| NM_002430.3:c.3942A>G MANE Select | NP_002421.3:p.Thr1314= |