Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168293141C>A , CM000663.2:g.168293141C>A | GRCh38 |
| NC_000001.10:g.168262379C>A , CM000663.1:g.168262379C>A | GRCh37 |
| NC_000001.9:g.166529003C>A | NCBI36 |
| NG_008244.1:g.17102C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367821.8:c.469-3C>A MANE Select | ENSP00000356795.3:n.469-3C>A | |
| ENST00000367821.7:c.469-3C>A | ENSP00000356795.3:n.469-3C>A | |
| ENST00000431969.5:c.266-3C>A | ||
| NM_005149.2:c.469-3C>A | NP_005140.1:n.469-3C>A | |
| NM_005149.3:c.469-3C>A MANE Select | NP_005140.1:n.469-3C>A |