Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7522756A>G , CM000681.2:g.7522756A>G | GRCh38 |
| NC_000019.9:g.7587642A>G , CM000681.1:g.7587642A>G | GRCh37 |
| NC_000019.8:g.7493642A>G | NCBI36 |
| NG_015806.1:g.5147A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.6A>G MANE Select | ENSP00000264079.5:p.Thr2= | |
| ENST00000264079.10:c.6A>G | ENSP00000264079.5:p.Thr2= | |
| ENST00000394321.9:n.86A>G | ||
| ENST00000596390.1:n.122A>G | ||
| ENST00000601003.1:c.6A>G | ENSP00000469074.1:p.Thr2= | |
| NM_020533.2:c.6A>G | NP_065394.1:p.Thr2= | |
| XR_936293.1:n.926+86T>C | ||
| XR_936294.1:n.926+86T>C | ||
| XR_936295.1:n.570+86T>C | ||
| XR_936293.2:n.952+86T>C | ||
| XR_936294.2:n.952+86T>C | ||
| NM_020533.3:c.6A>G MANE Select | NP_065394.1:p.Thr2= |