Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14978030T>G , CM000674.2:g.14978030T>G | GRCh38 |
| NC_000012.11:g.15130964T>G , CM000674.1:g.15130964T>G | GRCh37 |
| NC_000012.10:g.15022231T>G | NCBI36 |
| NG_016859.1:g.10009T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266395.3:c.18T>G MANE Select | ENSP00000266395.2:p.Thr6= | |
| ENST00000266395.2:c.18T>G | ENSP00000266395.2:p.Thr6= | |
| NM_006205.2:c.18T>G | NP_006196.1:p.Thr6= | |
| XR_931376.1:n.175+11457A>C | ||
| XM_017019431.2:c.18T>G | XP_016874920.1:p.Thr6= | |
| XR_931376.2:n.389+11457A>C | ||
| NM_006205.3:c.18T>G MANE Select | NP_006196.1:p.Thr6= |