Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063755C>A , CM000663.2:g.55063755C>A | GRCh38 |
| NC_000001.10:g.55529428C>A , CM000663.1:g.55529428C>A | GRCh37 |
| NC_000001.9:g.55302016C>A | NCBI36 |
| NG_009061.1:g.29209C>A , LRG_275:g.29209C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*590C>A | ENSP00000501161.2:n.*590C>A | |
| ENST00000710286.1:c.*171C>A | ENSP00000518176.1:n.*171C>A | |
| ENST00000673903.1:c.*171C>A | ENSP00000501257.1:n.*171C>A | |
| ENST00000302118.5:c.*171C>A MANE Select | ENSP00000303208.5:n.*171C>A | |
| ENST00000490692.1:n.2796C>A | ||
| NM_174936.3:c.*171C>A , LRG_275t1:c.*171C>A | NP_777596.2:n.*171C>A | |
| NR_110451.1:n.1857C>A | ||
| XM_011541193.1:c.*171C>A | XP_011539495.1:n.*171C>A | |
| NM_174936.4:c.*171C>A MANE Select | NP_777596.2:n.*171C>A | |
| NR_110451.2:n.1857C>A |