Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168293044T>G , CM000663.2:g.168293044T>G | GRCh38 |
| NC_000001.10:g.168262282T>G , CM000663.1:g.168262282T>G | GRCh37 |
| NC_000001.9:g.166528906T>G | NCBI36 |
| NG_008244.1:g.17005T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367821.8:c.469-100T>G MANE Select | ENSP00000356795.3:n.469-100T>G | |
| ENST00000367821.7:c.469-100T>G | ENSP00000356795.3:n.469-100T>G | |
| ENST00000431969.5:c.266-100T>G | ||
| NM_005149.2:c.469-100T>G | NP_005140.1:n.469-100T>G | |
| NM_005149.3:c.469-100T>G MANE Select | NP_005140.1:n.469-100T>G |