Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154321848C>A , CM000663.2:g.154321848C>A | GRCh38 |
| NC_000001.10:g.154294324C>A , CM000663.1:g.154294324C>A | GRCh37 |
| NC_000001.9:g.152560948C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324978.8:c.106-85C>A MANE Select | ENSP00000318355.3:n.106-85C>A | |
| ENST00000324978.7:c.106-85C>A | ENSP00000318355.3:n.106-85C>A | |
| ENST00000355197.4:n.171+588C>A | ||
| ENST00000484864.1:c.106-85C>A | ENSP00000420341.1:n.106-85C>A | |
| NM_080429.2:c.106-85C>A | NP_536354.2:n.106-85C>A | |
| XM_011510104.1:c.106-82C>A | XP_011508406.1:n.106-82C>A | |
| XM_011510104.2:c.106-82C>A | XP_011508406.1:n.106-82C>A | |
| NM_080429.3:c.106-85C>A MANE Select | NP_536354.2:n.106-85C>A |