Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14978039T>C , CM000674.2:g.14978039T>C | GRCh38 |
| NC_000012.11:g.15130973T>C , CM000674.1:g.15130973T>C | GRCh37 |
| NC_000012.10:g.15022240T>C | NCBI36 |
| NG_016859.1:g.10018T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266395.3:c.27T>C MANE Select | ENSP00000266395.2:p.Ala9= | |
| ENST00000266395.2:c.27T>C | ENSP00000266395.2:p.Ala9= | |
| NM_006205.2:c.27T>C | NP_006196.1:p.Ala9= | |
| XR_931376.1:n.175+11448A>G | ||
| XM_017019431.2:c.27T>C | XP_016874920.1:p.Ala9= | |
| XR_931376.2:n.389+11448A>G | ||
| NM_006205.3:c.27T>C MANE Select | NP_006196.1:p.Ala9= |